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Cohen syndrome

*Gene map locus 8q22-q23
COH1
Hypotonia, obesity, and prominent incisors
Pepper syndrome
[Clinical features: developmental delay; mental retardation; microcephaly; typical facial dysmorphism; progressive pigmentary retinopathy; severe myopia; intermittent neutropenia]
[Inheritance: autosomal recessive]

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Allelic Heterogeneity in the COH1 Gene Explains Clinical Variability in Cohen Syndrome
Allelic Heterogeneity in the COH1 Gene Explains Clinical Variability in Cohen Syndrome
American Journal of Human Genetics
American Journal of Human Genetics

Cohen Syndrome Is Caused by Mutations in a Novel Gene, COH1, Encoding a Transmembrane Protein with a Presumed Role in Vesicle-Mediated Sorting and Intracellular Protein Transport
Delineation of Cohen Syndrome Following a Large-Scale Genotype-Phenotype Screen
American Journal of Human Genetics
American Journal of Human Genetics

Ocular findings in Brazilian identical twins with Cohen syndrome: case report
Ocular findings in Brazilian identical twins with Cohen syndrome: case report
Arquivos Brasileiros de Oftalmologia
Arquivos Brasileiros de Oftalmologia

Corneal ectasia associated with Cohen syndrome: a role for COH1 in corneal development and maintenance?
The ophthalmic findings in Cohen syndrome
British Journal of Ophthalmology
British Journal of Ophthalmology

Diagnostic criteria, clinical characteristics, and natural history of Cohen syndrome
Diagnostic criteria, clinical characteristics, and natural history of Cohen syndrome
Journal of Medical Genetics
Journal of Medical Genetics

Diagnostic criteria, clinical characteristics, and natural history of Cohen syndrome
Diagnostic criteria, clinical characteristics, and natural history of Cohen syndrome
Journal of Medical Genetics
Journal of Medical Genetics

Diagnostic criteria, clinical characteristics, and natural history of Cohen syndrome
Diagnostic criteria, clinical characteristics, and natural history of Cohen syndrome
Journal of Medical Genetics
Journal of Medical Genetics

   
Mutational spectrum of COH1 and clinical heterogeneity in Cohen syndrome
   
Journal of Medical Genetics
   

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Edited by Aldo Campana, July 4, 2014