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Article

Novel RAB3GAP1 compound heterozygous mutations in Japanese siblings with Warburg Micro syndrome.

Brain & development - 1 Mar 2016

Asahina Miki, Endoh Yusaku, Matsubayashi Tomoko, Fukuda Tokiko, Ogata Tsutomu

Abstract excerpt

BACKGROUND: Warburg Micro syndrome (WARBM) is a rare autosomal recessive disease characterized by postnatal growth retardation, microcephaly, severely delayed motor and intellectual development, microcornea, congenital cataracts, optic atrophy, and hypogonadism. While WARBM is a genetically heterogeneous condition, RAB3GAP1 mutations account for ∼40% of WARBM patients, and 69 different mutations of various types...

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PMID: 26421802
DOI: 10.1016/j.braindev.2015.09.006

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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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