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Article

RECURRENT RAB3GAP1 MUTATIONS IN THE TURKISH POPULATION.

Genetic counseling (Geneva, Switzerland) - 1 Jan 2015

Tasdemir S, Sahin I, Morris-Rosendahl D J, Marzioglu E, Cayir A, Yuce I, Tatar A

Abstract excerpt

Warburg Micro Syndrome (WARBM, MIM 600118) is a rare, severe autosomal recessive neurodevelopmental disorder characterized by microcephaly, microphthalmia, microcornea, congenital cataract, cortical dysplasia, corpus callosum hypoplasia, intellectual disability, hypotonia and hypogonadism. RABS, small G proteins belonging to the RAS superfamily, are master regulators of vesicle trafficking in the cell. The...

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Source

Identifiers

PMID: 26852512

Genes

RAB18
RABGAP1

Provenance

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.

Related research

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RECURRENT RAB3GAP1 MUTATIONS IN THE TURKISH POPULATION.PMID 26852512Read ↗

Case report of four siblings in southeast Turkey with a novel RAB3GAP2 splice site mutation: Warburg micro syndrome or Martsolf syndrome?Semantic proximity Read ↗

A homozygous RAB3GAP2 mutation causes Warburg Micro syndrome.Semantic proximity Read ↗

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

Novel manifestations of Warburg micro syndrome type 1 caused by a new splicing variant of RAB3GAP1: a case report.Semantic proximity Read ↗

Exome sequencing identifies a novel pathogenic variant in RAB3GAP1 causing Warburg Micro syndrome in a Pakistani family.Semantic proximity Read ↗

Whole-Exome Sequencing and Copy Number Analysis in a Patient with Warburg Micro Syndrome.Semantic proximity Read ↗

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

Novel RAB3GAP1 compound heterozygous mutations in Japanese siblings with Warburg Micro syndrome.Semantic proximity Read ↗

Loss-of-function mutations in RAB18 cause Warburg micro syndrome.Semantic proximity Read ↗

From cataract to syndrome diagnosis: Revaluation of Warburg-Micro syndrome Type 1 patients.Semantic proximity Read ↗

Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndrome.Semantic proximity Read ↗

Martsolf syndrome with novel mutation in the TBC1D20 gene in a family from Iran.Semantic proximity Read ↗

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