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A homozygous RAB3GAP2 mutation causes Warburg Micro syndrome.

Human genetics - 1 Jan 2011

Borck Guntram, Wunram Heidrun, Steiert Angela, Volk Alexander E, Körber Friederike, Roters Sigrid, Herkenrath Peter, Wollnik Bernd, Morris-Rosendahl Deborah J, Kubisch Christian

Abstract excerpt

Warburg Micro syndrome and Martsolf syndrome are clinically overlapping autosomal recessive conditions characterized by congenital cataracts, microphthalmia, postnatal microcephaly, and developmental delay. The neurodevelopmental and ophthalmological phenotype is more severe in Warburg Micro syndrome in which cerebral malformations and severe motor and mental retardation are common. While biallelic...

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PMID: 20967465
DOI: 10.1007/s00439-010-0896-2

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A homozygous RAB3GAP2 mutation causes Warburg Micro syndrome.PMID 20967465Read ↗

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Mutation spectrum in RAB3GAP1, RAB3GAP2, and RAB18 and genotype-phenotype correlations in warburg micro syndrome and Martsolf syndrome.Semantic proximity Read ↗

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