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Article

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

Ophthalmic genetics - 1 Jun 2018

Gumus Evren

Abstract excerpt

BACKGROUND: Warburg micro syndrome is a very rare autosomal recessive disorder characterized by a mutation in the RAB3GAP1, RAB3GAP2, RAB18, and TBC1D20 genes. Warburg Micro syndrome 2 and Martsolf syndrome are clinically overlapping conditions characterized by variable clinical signs counting postnatal growth retardation, cataract, intellectual deficiency, contractures, and central nervous system abnormalities...

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Identifiers

PMID: 29419336
DOI: 10.1080/13816810.2018.1432065

Genes

RAB18

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Case report of four siblings in southeast Turkey with a novel RAB3GAP2 splice site mutation: Warburg micro syndrome or Martsolf syndrome?PMID 29419336Read ↗

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

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

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

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