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¿qué es 'Síndrome de Noonan - multisistémica trastorno genético con la enfermedad del corazón, problemas de aprendizaje y rasgos faciales anormales '?
Definición de Síndrome de Noonan
Noonan Syndrome (NS) is a relatively common congenital genetic condition which affects both males and females.
más
Noonan Syndrome (NS) is a relatively common congenital genetic condition which affects both males and females. The principal features include congenital heart malformation, short stature, learning problems, indentation of the chest, impaired blood clotting, and a characteristic configuration of facial features. The syndrome is named after Dr Jacqueline Noonan, a paediatric cardiologist based in Kentucky.
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do i have 'Síndrome de Noonan'?
Además las siguientes pruebas de diagnóstico puede ser necesario para ayudar a verificar el diagnóstico:
prueba de diagnóstico de los resultados de la búsqueda 'Síndrome de Noonan'
1 - 5 of
21
pruebas de diagnóstico
Análisis cromosómico
Síndrome de Noonan y Análisis cromosómico
Los estudios de genética molecular
Síndrome de Noonan y Los estudios de genética molecular
Parcial de tromboplastina activada tiempo
Síndrome de Noonan y Parcial de tromboplastina activada tiempo
Sangre, plaquetas
Platelet Count
Síndrome de Noonan y Sangre, plaquetas
La radiografía de tórax
Radiological technique to image the chest
Síndrome de Noonan y La radiografía de tórax
Completo de células sanguíneas
Síndrome de Noonan y Completo de células sanguíneas
Ecocardiograma
Síndrome de Noonan y Ecocardiograma
EKG
Electrocardiogram
Síndrome de Noonan y EKG
Audiencia de prueba
standard technique of representing hearing loss
Síndrome de Noonan y Audiencia de prueba
Prothrombin Time (PT)
Síndrome de Noonan y Prothrombin Time (PT)
La amniocentesis
Síndrome de Noonan y La amniocentesis
Tiempo de sangrado
Síndrome de Noonan y Tiempo de sangrado
Factor XI
Síndrome de Noonan y Factor XI
La ecografía prenatal
Ultrasound on the fetus before birth
Síndrome de Noonan y La ecografía prenatal
De rayos X columna vertebral
Síndrome de Noonan y De rayos X columna vertebral
pruebas de visión
Síndrome de Noonan y pruebas de visión
Prueba de la fragilidad capilar
Síndrome de Noonan y Prueba de la fragilidad capilar
Comprehensive eye exam
Síndrome de Noonan y Comprehensive eye exam
Developmental testing
Síndrome de Noonan y Developmental testing
X-rays
Síndrome de Noonan y X-rays
discurso de recepción umbral de la TER
Síndrome de Noonan y discurso de recepción umbral de la TER
para obtener más ingreso por favor, es de acceso libre (haga clic aquí para acceder)
procedimientos terapéuticos para 'Síndrome de Noonan'?
La gestión o tratamiento de enfermedades debe ser siempre determinada por un proveedor de servicios de salud los pacientes. Abajo hay una lista de asociados procedimientos terapéuticos o medicamentos para Noonan's Syndrome:
procedimiento terapéutico de los resultados de la búsqueda 'Síndrome de Noonan'
1 - 5 of
5
procedimientos terapéuticos
rankings are computer generated. por favor consulte a su proveedor de servicios de salud.
Reconstrucción craneofacial
Síndrome de Noonan y Reconstrucción craneofacial
Educación Especial
Síndrome de Noonan y Educación Especial
Terapia del habla
Síndrome de Noonan y Terapia del habla
Spinal Deformity Correction
Síndrome de Noonan y Spinal Deformity Correction
cirugía de columna
Síndrome de Noonan y cirugía de columna
medicamentos para los resultados de la búsqueda 'Síndrome de Noonan'
1 - 1 of
1
medicamentos
rankings are computer generated. por favor consulte a su proveedor de servicios de salud.
Somatropin
Síndrome de Noonan y Somatropin
resultados de la búsqueda web para 'Síndrome de Noonan'?
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Resultados
1 - 50
- Síndrome de Noonan
Noonan's Syndrome: Chromosomal and Genetic Abnormalities: Merck Manual ...
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Noonan's syndrome can be inherited or can develop unpredictably from a ... The gene responsible for Noonan's syndrome has been localized to chromosome 12. ...
http://www.merck.com/mmhe/sec23/ch266/ch266e.html
www.merck.com
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summary
[Noonan's syndrome. (Male Turner's syndrome, Turner-like syndrome)]
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1: Med Pregl. 1978;31(7-8):299-303. [Noonan's syndrome. ... Humans. Infant, Newborn. Male. Noonan Syndrome* PMID: 692497 [PubMed - indexed for MEDLINE] ...
http://www.ncbi.nlm.nih.gov/pubmed/692497
www.ncbi.nlm.nih.gov
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summary
Noonan syndrome - Wikipedia, the free encyclopedia
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Noonan Syndrome (NS) is a relatively common congenital genetic condition which ... The syndrome is named after Dr Jacqueline Noonan. ...
http://en.wikipedia.org/wiki/Noonan_syndrome
en.wikipedia.org
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Noonan syndrome - Genetics Home Reference
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Eye abnormalities occur in up to 95 percent of people with Noonan syndrome. ... Mutations in the KRAS, PTPN11, RAF1, and SOS1 genes cause Noonan syndrome. ...
http://ghr.nlm.nih.gov/condition=noonansyndrome
ghr.nlm.nih.gov
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Noonan Syndrome (Genetic Birth Defects Disorder) Causes, Features ...
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Learn about Noonan Syndrome - history, causes, signs and symptoms of this genetic disorder that causes a series of birth defects on MedicineNet.com
http://www.medicinenet.com/noonan_syndrome/article.htm
www.medicinenet.com
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summary
MedlinePlus Medical Encyclopedia: Noonan syndrome
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Includes the alternate names, a summary and a list of major features for Noonan syndrome. ... Noonan syndrome is a genetic disorder that causes abnormal ...
http://www.nlm.nih.gov/medlineplus/ency/article/001656.htm
www.nlm.nih.gov
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summary
Noonan Syndrome - Yahoo! Health
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Important It is possible that the main title of the report Noonan Syndrome is not the name you expected. Please check the synonyms listing to find the alternate ...
http://health.yahoo.com/other-other/noonan-syndrome/healthwise--nord412.html
health.yahoo.com
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summary
PMID 1224924
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... Dermatoglyphics in Noonan's Syndrome A dermatoglyphic analysis has been carried out in 7 boys and 5 girls affected by Noonan's syndrome. ...
http://www.ncbi.nlm.nih.gov/pubmed/1224924
www.ncbi.nlm.nih.gov
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summary
Noonan syndrome
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Noonan syndrome is a genetic disorder that causes abnormal development of ... Growth hormone has been used successfully in Noonan syndrome to treat short stature. ...
http://adam.about.com/encyclopedia/001656trt.htm
adam.about.com
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summary
Noonan Syndrome (Genetic Birth Defects Disorder) Causes, Features ...
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Read doctor-produced health and medical information written for you to make ... Noonan syndrome is a genetic disorder that causes birth defects (congenital ...
http://www.medicinenet.com/noonan_syndrome/index.htm
www.medicinenet.com
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summary
Long QT Syndrome: Chromosomal and Genetic Abnormalities: Merck Manual ...
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People with long QT syndrome have a prolongation of the QT interval. ... Previous: Klinefelter's Syndrome. Next: Noonan's Syndrome. Audio. Figures. Photographs ...
http://www.merck.com/mmhe/sec23/ch266/ch266i.html
www.merck.com
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summary
Noonan Syndrome -- GeneReviews -- NCBI Bookshelf
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Noonan syndrome (NS) is characterized by short stature, congenital heart defect, ... Few details of psychological health in Noonan syndrome are reported. ...
http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=noonan
www.ncbi.nlm.nih.gov
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summary
Noonan syndrome - References - Genetics Home Reference
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Allanson J. The first Noonan syndrome gene: PTPN11, which encodes the protein ... PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype ...
http://ghr.nlm.nih.gov/condition=noonansyndrome/show/References
ghr.nlm.nih.gov
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summary
Noonan Syndrome Glossary of Terms with Definitions on MedicineNet.com
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Noonan Syndrome glossary includes a list of Noonan Syndrome related medical definitions and related ... of terms that appear in the Noonan Syndrome article. ...
http://www.medicinenet.com/noonan_syndrome/glossary.htm
www.medicinenet.com
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summary
Noonan Syndrome
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Noonan syndrome (NS) is characterized by short stature; congenital ... with Noonan syndrome, in which pigmentary differences such as nevi (25%), café au ...
http://www.ncbi.nlm.nih.gov/bookshelf/picrender.fcgi?book=ge...
www.ncbi.nlm.nih.gov
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summary
Triple X Syndrome: Chromosomal and Genetic Abnormalities: Merck Manual ...
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Sometimes the syndrome causes menstrual irregularities ... Previous: Noonan's Syndrome. Next: Turner's Syndrome. Audio. Figures. Photographs. Pronunciations ...
http://www.merck.com/mmhe/sec23/ch266/ch266f.html?qt=infertility&alt=sh
www.merck.com
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summary
Leopard syndrome - Wikipedia, the free encyclopedia
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Noonan syndrome is fairly common (1:1000 to 1:2500 live births), and ... Noonan syndrome with café-au-lait spots and multiple lentigines syndrome are not ...
http://en.wikipedia.org/wiki/Leopard_syndrome
en.wikipedia.org
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Cardiofaciocutaneous syndrome - Genetics Home Reference
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... those of two other genetic conditions, Costello syndrome and Noonan syndrome. ... may actually have Costello syndrome or Noonan syndrome, which are caused by ...
http://ghr.nlm.nih.gov/condition=cardiofaciocutaneoussyndrome
ghr.nlm.nih.gov
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Noonan syndrome.
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Noonan syndrome. van der Burgt I. ... Noonan Syndrome (NS) is characterised by short stature, typical facial ... Noonan Syndrome/therapy* Pregnancy. Prenatal ...
http://www.ncbi.nlm.nih.gov/pubmed/17222357?ordinalpos=19&it...
www.ncbi.nlm.nih.gov
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Costello syndrome - Genetics Home Reference
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... genetic conditions, cardiofaciocutaneous (CFC) syndrome and Noonan syndrome. ... actually have cardiofaciocutaneous syndrome or Noonan syndrome, which are caused ...
http://ghr.nlm.nih.gov/condition=costellosyndrome
ghr.nlm.nih.gov
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MedicineNet Noonan Syndrome Specialty
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MedicineNet Noonan Syndrome Specialty. Hospitals: Can Yours Handle Your Emergency? ... Turner Syndrome. Caregiving. How to Choose a Doctor ...
http://www.medicinenet.com/rss/specialty/Noonan_Syndrome.xml
www.medicinenet.com
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summary
Keratosis pilaris atrophicans faciei (ulerythema ophryogenes): a ...
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... faciei (ulerythema ophryogenes): a cutaneous marker in the Noonan syndrome. ... Five cases are reported of Noonan's syndrome, all of which presented keratosis ...
http://www.ncbi.nlm.nih.gov/pubmed/454568
www.ncbi.nlm.nih.gov
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summary
Noonan syndrome - OMIM - Genetic disorder catalog - Genetics Home Reference
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Genetic Conditions > Noonan syndrome > OMIM - Genetic disorder catalog ... information in the Genetics Home Reference condition summary on Noonan syndrome. ...
http://ghr.nlm.nih.gov/condition=noonansyndrome/show/OMIM
ghr.nlm.nih.gov
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summary
Turner's Syndrome: Chromosomal and Genetic Abnormalities: Merck Manual ...
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... Syndrome· Noonan's Syndrome· Triple X Syndrome·Turner's Syndrome· XYY Syndrome. Turner's Syndrome ... with Turner's syndrome have swelling (lymphedema) ...
http://www.merck.com/mmhe/sec23/ch266/ch266d.html
www.merck.com
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summary
MedlinePlus Medical Encyclopedia: Pectus excavatum
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It is sometimes called "funnel chest". The majority of these cases are not associated with any other ... Review provided by VeriMed Healthcare Network. ...
http://www.nlm.nih.gov/medlineplus/ency/imagepages/2927.htm
www.nlm.nih.gov
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163950
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http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=163950
www.ncbi.nlm.nih.gov
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summary
Triple X Syndrome: Chromosomal and Genetic Abnormalities: Merck Manual ...
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Girls with triple X syndrome tend to have slightly lower ... Previous: Noonan Syndrome. Next: Turner Syndrome. Audio. Figures. Photographs. Pronunciations ...
http://www.merck.com/mrkshared/mmanual_home2/sec23/ch266/ch266f.jsp
www.merck.com
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Type 1 Arnold-Chiari malformation and Noonan syndrome. A new diagnostic ...
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2003 Oct;12(4):275. Type 1 Arnold-Chiari malformation and Noonan syndrome. ... Noonan syndrome is a clinically and genetically heterogeneous genetic condition. ...
http://www.ncbi.nlm.nih.gov/pubmed/14564218
www.ncbi.nlm.nih.gov
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summary
KRAS - v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog - Genetics ...
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Noonan syndrome - caused by mutations in the KRAS gene ... the signs and symptoms of Noonan syndrome, including short stature and facial abnormalities. ...
http://ghr.nlm.nih.gov/gene=kras
ghr.nlm.nih.gov
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summary
Are ECG abnormalities in Noonan syndrome characteristic for the syndrome?
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Of all patients with Noonan syndrome, 50-90% have one or more congenital heart defects. ... were diagnosed with definite Noonan syndrome and had had an ECG ...
http://www.ncbi.nlm.nih.gov/pubmed/18270737?dopt=Abstract
www.ncbi.nlm.nih.gov
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CFC syndrome: a syndrome distinct from Noonan syndrome.
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The first one has Noonan syndrome habitus associated with keratosis plantaris ... features are reviewed and the autonomy of the syndrome with regards to Noonan ...
http://www.ncbi.nlm.nih.gov/pubmed/3265306
www.ncbi.nlm.nih.gov
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summary
PTPN11 - protein tyrosine phosphatase, non-receptor type 11 - Genetics ...
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Noonan syndrome - caused by mutations in the PTPN11 gene. More than 50 mutations causing Noonan syndrome have been identified in the PTPN11 gene. ...
http://ghr.nlm.nih.gov/gene=ptpn11
ghr.nlm.nih.gov
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summary
Noonan syndrome with café-au-lait spots and multiple lentigines ...
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... in a family with Noonan syndrome and café-au-lait spots and in another family ... neither familial multiple lentigines syndrome nor Noonan syndrome is caused by a ...
http://www.ncbi.nlm.nih.gov/pubmed/7586657
www.ncbi.nlm.nih.gov
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summary
Neonatal Seizure, Noonan Syndrome, Otitis Media, Osteosarcoma, Night ...
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Pediatric Database - Neonatal Seizure, Noonan Syndrome, Otitis Media, Osteosarcoma ... Neonatal Seizure, Noonan Syndrome, Otitis Media, Osteosarcoma, Night ...
http://pedbase.org/n-o/
pedbase.org
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Noonan syndrome - MayoClinic.com
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Noonan syndrome ? Comprehensive overview covers causes, symptoms and treatment of this genetic disease. ... Noonan syndrome is caused by a genetic mutation and ...
http://www.mayoclinic.com/health/noonan-syndrome/DS00857
www.mayoclinic.com
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Search Results - Genetics Home Reference
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... overlap with those of Noonan syndrome and two other genetic ... Found: More than 10 mutations causing Noonan syndrome have been identified in the RAF1...
http://ghr.nlm.nih.gov/ghr/search?query=Noonan
ghr.nlm.nih.gov
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summary
8302230 1994 03 10 1994 03 10 2006 11 15 0026-4946 45 9 1993 Sep ...
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The incidence of Noonan syndrome has been estimated to be between 1 in 1000 and ... The primary biochemical defect in Noonan's syndrome is unknown. ...
http://www.ncbi.nlm.nih.gov/pubmed/8302230
www.ncbi.nlm.nih.gov
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Noonan syndrome: Causes - MayoClinic.com
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Noonan syndrome ? Comprehensive overview covers causes, symptoms and treatment of this genetic disease. ... It's estimated that Noonan syndrome occurs in one ...
http://www.mayoclinic.com/health/noonan-syndrome/DS00857/DSECTION=causes
www.mayoclinic.com
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601321
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http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601321
www.ncbi.nlm.nih.gov
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Blood/lymphatic system - Genetics Home Reference
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Noonan syndrome. Osler-Rendu Disease see hereditary hemorrhagic telangiectasia ... Turner's phenotype, karyotype normal see Noonan syndrome ...
http://ghr.nlm.nih.gov/conditionCategory=bloodlymphaticsystem
ghr.nlm.nih.gov
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609942
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http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609942
www.ncbi.nlm.nih.gov
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NOONAN SYNDROME - Pedbase.org
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3. King Syndrome. Noonan phenotype + malignant hyperthermia. INVESTIGATIONS: 1. ... 1994 -2007 Pedbase.org. Powered by Database of Pediatrics- NOONAN SYNDROME ...
http://pedbase.org/n/noonan-syndrome/
pedbase.org
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Mental health and behavior - Genetics Home Reference
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Male Turner Syndrome see Noonan syndrome ... Turner syndrome in female with X chromosome see Noonan syndrome. Turner's phenotype, karyotype normal see Noonan syndrome ...
http://ghr.nlm.nih.gov/conditionCategory=mentalhealthandbehavior
ghr.nlm.nih.gov
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summary
Clinical manifestations in patients with SOS1 mutations range from ...
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... in patients with SOS1 mutations range from Noonan syndrome to CFC syndrome. ... Noonan syndrome (NS) and cardio-facio-cutaneous (CFC) syndrome are autosomal ...
http://www.ncbi.nlm.nih.gov/pubmed/18651097?ordinalpos=19&it...
www.ncbi.nlm.nih.gov
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Bleeding diathesis in Noonan syndrome: a common association.
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The Noonan syndrome (NS) is a multiple congenital anomalies (MCA) syndrome with ... Noonan Syndrome/complications* Noonan Syndrome/genetics ...
http://www.ncbi.nlm.nih.gov/pubmed/3232698
www.ncbi.nlm.nih.gov
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Skin, hair, and nails - Genetics Home Reference
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... Turner Syndrome see Noonan syndrome ... Noonan syndrome. OCA see oculocutaneous albinism ... Turner syndrome in female with X chromosome see Noonan syndrome ...
http://ghr.nlm.nih.gov/conditionCategory=skinhairandnails
ghr.nlm.nih.gov
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Cardiofaciocutaneous syndrome - Wikipedia, the free encyclopedia
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Costello and Noonan syndrome are similar to CFC and their phenotypic overlap may ... Mutations that cause Noonan Syndrome have been found in PTPN11 and SOS1. ...
http://en.wikipedia.org/wiki/Cardio-facio-cutaneous_syndrome
en.wikipedia.org
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summary
Noonan syndrome: Symptoms - MayoClinic.com
[
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Noonan syndrome ? Comprehensive overview covers causes, symptoms and treatment of this genetic disease. ... most common heart problem seen with Noonan syndrome. ...
http://www.mayoclinic.com/health/noonan-syndrome/DS00857/DSECTION=symptoms
www.mayoclinic.com
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Noonan Syndrome - Yahoo! Health
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Noonan Syndrome Support Group. International network. Founded 1996. ... information for persons with Noonan syndrome, their families and interested others. ...
http://health.yahoo.com/children-genetic/noonan-syndrome/hea...
health.yahoo.com
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summary
Male Hypogonadism: Male Reproductive Endocrinology: Merck Manual ...
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The most common cause of primary hypogonadism is Klinefelter's syndrome. ... Noonan's syndrome. Chemotherapy/radiation therapy ...
http://www.merck.com/mmpe/sec17/ch227/ch227b.html
www.merck.com
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