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Article

Gene analysis: A rare gene disease of intellectual deficiency-Cohen syndrome.

International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience - 1 Aug 2018

Yang Chengqing, Hou Mei, Li Yutang, Sun Dianrong, Guo Ya, Liu Peipei, Liu Yedan, Song Jie, Zhang Na, Wei Wei, Chen Zongbo

Abstract excerpt

Cohen syndrome is a rare, genetic, connective-tissue disorder, which is caused by mutations in the gene COH1 (VPS13B, Vacuolar Protein Sorting 13 Homolog B) at the chromosome 8q22. The disease is rare reported, which major clinical features include postnatal microcephaly, obesity, short stature, intellectual disability, progressive retinal dystrophy, intermittent neutropenia and many other unusual facial feature....

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Identifiers

PMID: 29758347
DOI: 10.1016/j.ijdevneu.2018.05.004

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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