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Article

New RAB3GAP1 mutations in patients with Warburg Micro Syndrome from different ethnic backgrounds and a possible founder effect in the Danish.

European journal of human genetics : EJHG - 1 Oct 2010

Morris-Rosendahl Deborah J, Segel Reeval, Born A Peter, Conrad Christoph, Loeys Bart, Brooks Susan Sklower, Müller Laura, Zeschnigk Christine, Botti Christina, Rabinowitz Ron, Uyanik Gökhan, Crocq Marc-Antoine, Kraus Uwe, Degen Ingrid, Faes Fran

Abstract excerpt

Warburg Micro Syndrome is a rare, autosomal recessive syndrome characterized by microcephaly, microphthalmia, microcornia, congenital cataracts, optic atrophy, cortical dysplasia, in particular corpus callosum hypoplasia, severe mental retardation, spastic diplegia, and hypogonadism. We have foun...

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PMID: 20512159
DOI: 10.1038/ejhg.2010.79
PMCID: PMC2987448

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-20512159-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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