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Article

First case report of Cohen syndrome in the Tunisian population caused by VPS13B mutations.

BMC medical genetics - 17 Nov 2017

Rejeb Imen, Jilani Houweyda, Elaribi Yasmina, Hizem Syrine, Hila Lamia, Zillahrdt Julia Lauer, Chelly Jamel, Benjemaa Lamia

Abstract excerpt

BACKGROUND: Cohen syndrome is a rare autosomal recessive developmental disorder that comprises variable clinical features counting developmental delay, pigmentary retinopathy, myopia, acquired microcephaly, truncal obesity, joint hypermobility, friendly disposition and intermittent neutropenia. VPS13B (vacuolar protein sorting 13, yeast, homologue of B) gene is the only gene responsible for Cohen Syndrome,...

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Identifiers

PMID: 29149870
DOI: 10.1186/s12881-017-0493-5
PMCID: PMC5693559

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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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