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Article

Congenital neutropenia with retinopathy, a new phenotype without intellectual deficiency or obesity secondary to VPS13B mutations.

American journal of medical genetics. Part A - 1 Feb 2014

Gueneau Lucie, Duplomb Laurence, Sarda Pierre, Hamel Christian, Aral Bernard, Chehadeh Salima El, Gigot Nadège, St-Onge Judith, Callier Patrick, Thevenon Julien, Huet Frédéric, Carmignac Virginie, Droin Nathalie, Faivre Laurence, Thauvin-Robinet Christel

Abstract excerpt

Over one hundred VPS13B mutations are reported in Cohen syndrome (CS). Most cases exhibit a homogeneous phenotype that includes intellectual deficiency (ID), microcephaly, facial dysmorphism, slender extremities, truncal obesity, progressive chorioretinal dystrophy, and neutropenia. We report on a patient carrying two VPS13B splicing mutations with an atypical phenotype that included microcephaly, retinopathy,...

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Identifiers

PMID: 24311531
DOI: 10.1002/ajmg.a.36300

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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