Cohen syndrome

8q22-q23 GeneReviews Google OMIM Orphanet PubMed Who named it? Wikipedia

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]


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


Delineation of Cohen Syndrome Following a Large-Scale Genotype-Phenotype Screen	Corneal ectasia associated with Cohen syndrome: a role for COH1 in corneal development and maintenance?	The ophthalmic findings in Cohen syndrome
American Journal of Human Genetics	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	Diagnostic criteria, clinical characteristics, and natural history of Cohen syndrome
Journal of Medical Genetics	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	Diagnostic criteria, clinical characteristics, and natural history of Cohen syndrome
Journal of Medical Genetics	Journal of Medical Genetics	Journal of Medical Genetics


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

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Edited by Aldo Campana, March 14, 2010