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¿qué es 'Síndrome de Cohen - rara enfermedad congénita con la obesidad y retraso mental '?
Definición de Síndrome de Cohen
Cohen syndrome has several characteristics such as obesity, mental retardation and craniofacial dysmorphism.
más
Cohen syndrome has several characteristics such as obesity, mental retardation and craniofacial dysmorphism. It has an autosomal recessive transmission with variable expression.
Cohen syndrome is diagnosed by clinical examination, but often difficult due to variation in expression.
Ocular complications, though rare, are listed as optic atrophy, microphthalmia, pigmentary chorioretinitis, hemeralopia (decreased vision in bright light), myopia, strabismus, nystagmus and iris/retinal coloboma.
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do i have 'Síndrome de Cohen'?
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 Cohen'
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5
pruebas de diagnóstico
Completo de células sanguíneas
Síndrome de Cohen y Completo de células sanguíneas
Ecocardiograma
Síndrome de Cohen y Ecocardiograma
Los estudios de genética molecular
Síndrome de Cohen y Los estudios de genética molecular
Comprehensive eye exam
Síndrome de Cohen y Comprehensive eye exam
Developmental testing
Síndrome de Cohen y Developmental testing
procedimientos terapéuticos para 'Síndrome de Cohen'?
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 Cohen's Syndrome:
procedimiento terapéutico de los resultados de la búsqueda 'Síndrome de Cohen'
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medicamentos para los resultados de la búsqueda 'Síndrome de Cohen'
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resultados de la búsqueda web para 'Síndrome de Cohen'?
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- Síndrome de Cohen
Cohen syndrome - Wikipedia, the free encyclopedia
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One case of the Cohen Syndrome, in a Palestinian boy from Tul-Karem, was ... Cohen syndrome is caused by mutations in a novel gene, COH1, encoding a ...
http://en.wikipedia.org/wiki/Cohen_syndrome
en.wikipedia.org
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Cohen syndrome - Genetics Home Reference
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Cohen syndrome is an inherited disorder that affects many parts of the body and ... Gene Review: Cohen Syndrome. MedlinePlus Encyclopedia: Hypotonia ...
http://ghr.nlm.nih.gov/condition=cohensyndrome
ghr.nlm.nih.gov
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Cohen Syndrome - Yahoo! Health
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Cohen Syndrome Support Group. International network. Founded 1996. ... Cohen Syndrome Support Group. 21 Tudor Ave. Bebington Wirral, CH63 3EJ UK. CALL: 0151 334 4297 ...
http://health.yahoo.com/other-other/cohen-syndrome/healthwise--shc29coh.html
health.yahoo.com
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Cohen Syndrome -- GeneReviews -- NCBI Bookshelf
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Cohen syndrome is inherited in an autosomal recessive manner. ... Offspring of an individual with Cohen syndrome are obligate heterozygotes (carriers) ...
http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=cohen
www.ncbi.nlm.nih.gov
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Simian crease
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Down syndrome. Aarskog syndrome. Cohen syndrome. Fetal alcohol syndrome. Trisomy 13 ... Cri du chat syndrome. What to Expect at Your Office Visit ...
http://adam.about.com/encyclopedia/Simian-crease.htm
adam.about.com
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Discovery Health :: Syndrome W
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What is Syndrome W and how does it relate to diabetes? ... Ilene Cohen couldn't figure out what was wrong, and neither could her doctors. ...
http://health.discovery.com/centers/womens/diabetes/syndromew/syndromew.html
health.discovery.com
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Site Map od Pedbase.org - The Pediatric Database
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Pedbase Site Map. Pediatric. Site Map. Resources. Contact. PEDBASE.org - The Pediatric Database. A. B. C. D. E. F. G. H. I. J. K. L. M. N. O. P. R. S. T. U. V. W. X ...
http://pedbase.org/sitemap.html
pedbase.org
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MedlinePlus Medical Encyclopedia: Simian crease
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Down syndrome. Aarskog syndrome. Cohen syndrome. Fetal alcohol syndrome. Trisomy 13 ... Cri du chat syndrome. What to Expect at Your Office Visit Return to top ...
http://www.nlm.nih.gov/medlineplus/ency/article/003290.htm
www.nlm.nih.gov
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Cohen syndrome - References - Genetics Home Reference
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Gene Review: Cohen Syndrome ... Cohen syndrome is caused by mutations in a novel gene, COH1, encoding a ... Cohen syndrome: report of nine cases and review of ...
http://ghr.nlm.nih.gov/condition=cohensyndrome/show/References
ghr.nlm.nih.gov
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216550
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http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=216550
www.ncbi.nlm.nih.gov
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Mirhosseini-Holmes-Walton syndrome - Wikipedia, the free encyclopedia
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There is some evidence that it has the same genetic cause as Cohen syndrome.[2] ... Are the Mirhosseini-Holmes-Walton syndrome and the Cohen syndrome identical?". Am. ...
http://en.wikipedia.org/wiki/Mirhosseini-Holmes-Walton_syndrome
en.wikipedia.org
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emailAFriend
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Cohen Syndrome * Indicates required fields. From: Your Name:* Your Email Address:* To: ... Clicking the send button signifies that you have read and agree to ...
http://www.webmd.com/email_friend?chronicID=091e9c5e8001ed7d
www.webmd.com
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Brain and nervous system - Genetics Home Reference
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Hypotonia, obesity, and prominent incisors see Cohen syndrome ... Norio syndrome see Cohen syndrome. NPD see Niemann-Pick disease ...
http://ghr.nlm.nih.gov/ghr/conditionsByCategory/show/brainandnervoussystem
ghr.nlm.nih.gov
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Cohen syndrome: essential features, natural history, and heterogeneity.
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... the clinical picture in Cohen syndrome (MIM 216550), an autosomal recessive ... probably exists among other patients claimed to have Cohen syndrome. ...
http://www.ncbi.nlm.nih.gov/pubmed/11477603
www.ncbi.nlm.nih.gov
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MICROCEPHALY - Pedbase.org
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Aicardi Syndrome. Beckwith-Wiedemann Syndrome. Bloom Syndrome. Cohen Syndrome. Cornelia de Lange ... Dubowitz Syndrome. Rubinstein-Taybi Syndrome. Smith-Lemli ...
http://www.pedbase.org/m/microcephaly
www.pedbase.org
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Mechanisms of myopia in Cohen syndrome mapped to chromosome 8q22.
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CONCLUSIONS: Myopia in Cohen syndrome is mainly refractive in type and is due to ... The refractive myopia in Cohen syndrome may result from dysgenesis and atrophy ...
http://www.ncbi.nlm.nih.gov/pubmed/11980891
www.ncbi.nlm.nih.gov
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Encyclopedia C-Cz on Yahoo! Health
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Health encyclopedia of diseases and conditions covering symptoms, definitions, alternative names, causes, incidence, ... Cohen Syndrome. Colchicine for gout ...
http://health.yahoo.com/ency/c/
health.yahoo.com
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MedlinePlus Medical Encyclopedia: Short philtrum
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Chromosome 18q deletion syndrome. Cohen syndrome. DiGeorge syndrome. Oral-facial-digital syndrome (OFD) Home Care Return to top ...
http://www.nlm.nih.gov/medlineplus/ency/article/003302.htm
www.nlm.nih.gov
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Proteus syndrome - Wikipedia, the free encyclopedia
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Cohen MM, Hayden PW (1979). " A newly recognized hamartomatous syndrome" ... Tibbles J, Cohen M (1986). " The Proteus syndrome: the Elephant Man diagnosed" ...
http://en.wikipedia.org/wiki/Proteus_syndrome
en.wikipedia.org
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Chromosome 8 - Conditions related to genes on chromosome 8 - Genetics ...
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Baller-Gerold syndrome. branchiootorenal syndrome. breast cancer ... CHARGE syndrome. Cohen syndrome. color vision deficiency. congenital hypothyroidism ...
http://ghr.nlm.nih.gov/chromosome=8/show/Conditions
ghr.nlm.nih.gov
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Proteus syndrome: an update.
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Proteus syndrome: an update. Cohen MM Jr. Dalhousie University, Halifax, Nova Scotia, Canada. ... Proteus syndrome is a complex disorder consisting variably of ...
http://www.ncbi.nlm.nih.gov/pubmed/16010681?ordinalpos=2&ito...
www.ncbi.nlm.nih.gov
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Tongue Disorders: Lip and Tongue Disorders: Merck Manual Home Edition
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Intense pain of the entire mouth can be caused by burning mouth syndrome. ... Last full review/revision October 2006 by Robert B. Cohen, DMD. Back to Top ...
http://www.merck.com/mmhe/sec08/ch110/ch110c.html
www.merck.com
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Short philtrum
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... syndrome. Cohen syndrome. DiGeorge syndrome. Oral-facial-digital syndrome ... and signs that, when taken together, define a specific syndrome or condition. ...
http://adam.about.com/encyclopedia/Short-philtrum.htm
adam.about.com
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Discovery Health :: Frequently Asked Questions About Proteus Syndrome
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Find out more about the rare condition called Proteus syndrome. ... but it was first officially identified in the late 1970s by Dr. Michael Cohen Jr. ...
http://health.discovery.com/convergence/elephantman/proteusfaq.html
health.discovery.com
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Facial Injuries and Disorders - Genetics Home Reference
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Coffin-Lowry syndrome. Cohen syndrome. craniometaphyseal dysplasia. Crouzonodermoskeletal syndrome ... syndrome. Simpson-Golabi-Behmel syndrome. Treacher ...
http://ghr.nlm.nih.gov/conditionGroup=facialinjuriesanddisorders
ghr.nlm.nih.gov
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16493448 2006 04 25 2006 06 23 2007 08 13 1018-4813 14 5 2006 May Eur ...
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We have tentatively named this condition MORM syndrome. ... Furthermore, linkage to the known Bardet-Biedl (BBS1-8) and Cohen syndrome loci was excluded. ...
http://www.ncbi.nlm.nih.gov/pubmed/16493448
www.ncbi.nlm.nih.gov
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Cohen syndrome: report of nine cases and review of the literature, with ...
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The typical phenotype of Cohen syndrome is variable and includes mild to severe ... CONCLUSIONS: Cohen syndrome remains underdiagnosed or misdiagnosed by ...
http://www.ncbi.nlm.nih.gov/pubmed/17383910?ordinalpos=1&ito...
www.ncbi.nlm.nih.gov
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VPS13B - vacuolar protein sorting 13 homolog B (yeast) - Genetics Home ...
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Cohen syndrome - caused by mutations in the VPS13B gene ... absence of the VPS13B protein leads to the signs and symptoms of Cohen syndrome. ...
http://ghr.nlm.nih.gov/gene=vps13b
ghr.nlm.nih.gov
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MedlinePlus: Facial Injuries and Disorders
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Crouzon Syndrome (Craniofacial Dysostosis)(Cleft Palate Foundation) ... Genetics Home Reference: Cohen syndrome(National Library of Medicine) ...
http://www.nlm.nih.gov/medlineplus/facialinjuriesanddisorders.html
www.nlm.nih.gov
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Tourette syndrome - Wikipedia, the free encyclopedia
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Cohen AJ, Leckman JF. " Sensory phenomena associated with Gilles de la Tourette's syndrome" ... Cohen DJ, Jankovic J, Goetz CG, (eds). Advances in neurology, ...
http://en.wikipedia.org/wiki/Tourette_syndrome
en.wikipedia.org
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Cohen syndrome homolog 1 (Cohh1)
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Norway rat protein-coding gene Cohh1. Represented by 40 ESTs from 29 cDNA libraries. ... Rattus norvegicus Cohen syndrome homolog 1 (Cohh1), mRNA. PA ...
http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Rn&CID=7442
www.ncbi.nlm.nih.gov
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Food, nutrition, and metabolism - Genetics Home Reference
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Cohen syndrome. complex carbohydrate intolerance see glucose-galactose malabsorption ... Hypotonia, obesity, and prominent incisors see Cohen syndrome ...
http://ghr.nlm.nih.gov/ghr/conditionsByCategory/show/foodnutritionandmetabolism
ghr.nlm.nih.gov
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WebMD Health A-Z - Find reliable health and medical information on ...
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Find a comprehensive index of trusted health and medical information. It is your ultimate guide to reliable health ... Cohen Syndrome. Cold. Cold Agglutinin ...
http://www.webmd.com/a-to-z-guides/health-topics/ck-co.htm
www.webmd.com
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Search Results - Genetics Home Reference
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Beare-Stevenson cutis gyrata syndrome. Condition summary ... Cohen syndrome. Condition summary. Found in link title: Facial Injuries and Disorders ...
http://ghr.nlm.nih.gov/ghr/search?query="Facial+Injuries+and...
ghr.nlm.nih.gov
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Search Results - Genetics Home Reference
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Cohen syndrome. Condition summary. Found in name or synonym: obesity-hypotonia syndrome ... People with Prader-Willi syndrome typically... Alström syndrome ...
http://ghr.nlm.nih.gov/search?query="Obesity"
ghr.nlm.nih.gov
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Prader-Willi Syndrome -- GeneReviews -- NCBI Bookshelf
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Cohen syndrome, characterized by down-slanting palpebral fissures, short ... Cohen syndrome is caused by mutations in COH1. Inheritance is autosomal recessive. ...
http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=pws
www.ncbi.nlm.nih.gov
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Autism and Asperger syndrome information on MedicineNet.com
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You've probably heard of autism, but what is Asperger syndrome? ... As a result, Baron-Cohen and colleagues are conducting ongoing research about ...
http://www.medicinenet.com/script/main/art.asp?articlekey=50405
www.medicinenet.com
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Cohen syndrome
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Cohen syndrome correspond to the same process. ... Cohen syndrome, obesity, mental retardation, craniofacial dysmorphism, COH1 gene. ...
http://www.orpha.net/data/patho/GB/uk-cohen.pdf
www.orpha.net
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Search Results - Genetics Home Reference
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Cohen syndrome. Condition summary. Found in name or synonym: obesity-hypotonia syndrome ... People with Prader-Willi syndrome typically...
http://ghr.nlm.nih.gov/search?query="Obesity"&show=conditions
ghr.nlm.nih.gov
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Prader-Willi and other syndromes associated with obesity and mental ...
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... multiple congenital anomaly syndromes, including Prader-Willi syndrome, Bardet-Biedl syndrome, Cohen syndrome, Albright hereditary osteodystrophy, and Borjeson ...
http://www.ncbi.nlm.nih.gov/pubmed/9519559?ordinalpos=109&it...
www.ncbi.nlm.nih.gov
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The Price Tag of Living With Chronic Pain
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... irritable bowel syndrome (IBS), and complex regional pain syndrome. "There's much less sympathy and understanding for these elusive syndromes," says Cohen. ...
http://www.webmd.com/pain-management/features/price-tag-chronic-pain?page=2
www.webmd.com
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COHEN SYNDROME - Pedbase.org
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the Cohen Syndrome gene (CHS1) was assigned to 8q in June 1994 (Tahvanainen et ... 1994 -2007 Pedbase.org. Powered by Database of Pediatrics- COHEN SYNDROME ...
http://pedbase.org/c/cohen-syndrome/
pedbase.org
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VPS13B - References - Genetics Home Reference
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Gene Review: Cohen Syndrome ... Cohen syndrome is caused by mutations in a novel gene, COH1, encoding a ... Delineation of Cohen syndrome following a large ...
http://ghr.nlm.nih.gov/gene=vps13b/show/References
ghr.nlm.nih.gov
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-- GeneReviews -- NCBI Bookshelf
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Alagille Syndrome Nancy B Spinner, Ian D Krantz, and Binita M Kamath Initial ... Cohen Syndrome Marni J Falk, Heng Wang, and Elias I Traboulsi Initial Posting: ...
http://www.ncbi.nlm.nih.gov/books/bv.fcgi?call=bv.View..ShowTOC&rid=gene.TOC
www.ncbi.nlm.nih.gov
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Search Results - Genetics Home Reference
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Found: Cohen syndrome is an inherited disorder that... Found: ...VPS13B gene have been shown to cause Cohen syndrome. Most of these mutations result...
http://ghr.nlm.nih.gov/ghr/search?query=Cohen
ghr.nlm.nih.gov
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Werner Syndrome -- GeneReviews -- NCBI Bookshelf
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... individuals with Werner syndrome [Tollefsbol & Cohen 1984, Goto 1997, ... Cohen LK, Thurmon TF, Salvaggio J. Werner's syndrome. Cutis. 1973; 12: 76?80. ...
http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=werner
www.ncbi.nlm.nih.gov
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Orphanet: Cohen syndrome
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The portal for rare diseases and orphan drugs ... Cohen syndrome is characterized by obesity, hypotonia, intellectual deficit, ...
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=193
www.orpha.net
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PMID 118782
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A newly recognized hamartomatous syndrome. 291-6 Cohen M M MM Jr Hayden P W PW eng Case Reports ... Sclera Skin Neoplasms genetics Syndrome 1979 1 1 2001 3 ...
http://www.ncbi.nlm.nih.gov/pubmed/118782
www.ncbi.nlm.nih.gov
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Cohen Syndrome - Yahoo! Health
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Important It is possible that the main title of the report Cohen Syndrome is not the name you expected. Please check the synonyms listing to find the alternate name ...
http://health.yahoo.com/children-genetic/cohen-syndrome/healthwise--nord751.html
health.yahoo.com
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Croup,Cystinosis, Chronic Bronchitis, Colic, Cystinuria, Chronic Cough ...
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Pediatric Database - Croup,Cystinosis, Chronic Bronchitis, Colic, Cystinuria, Chronic Cough ... 1994 -2007 Pedbase.org. Powered by Database of Pediatrics ...
http://www.pedbase.org/c/
www.pedbase.org
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