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Article

Allelic heterogeneity in the COH1 gene explains clinical variability in Cohen syndrome.

American journal of human genetics - 1 Jul 2004

Hennies Hans Christian, Rauch Anita, Seifert Wenke, Schumi Christian, Moser Elisabeth, Al-Taji Eva, Tariverdian Gholamali, Chrzanowska Krystyna H, Krajewska-Walasek Malgorzata, Rajab Anna, Giugliani Roberto, Neumann Thomas E, Eckl Katja M, Karbasiyan Mohsen, Reis André, Horn Denise

Abstract excerpt

Cohen syndrome is a rare autosomal recessive disorder with a variable clinical picture mainly characterized by developmental delay, mental retardation, microcephaly, typical facial dysmorphism, progressive pigmentary retinopathy, severe myopia, and intermittent neutropenia. A Cohen syndrome locus was mapped to chromosome 8q22 in Finnish patients, and, recently, mutations in the gene COH1 were reported in patients...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 15154116
DOI: 10.1086/422219
PMCID: PMC1181997

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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