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Article

RAB3GAP1, RAB3GAP2 and RAB18: disease genes in Micro and Martsolf syndromes.

Biochemical Society transactions - 1 Dec 2012

Handley Mark T, Aligianis Irene A

Abstract excerpt

Micro syndrome (OMIM 60018) and Martsolf syndrome (OMIM 21270) are related rare autosomal recessive disorders characterized by ocular and neurological abnormalities and hypothalamic hypogonadism. Micro syndrome has been associated with causative mutations in three disease genes: RAB3GAP1, RAB3GAP2 and RAB18. Martsolf syndrome has been associated with a mutation in RAB3GAP2. The present review summarizes the...

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Source

Identifiers

PMID: 23176487
DOI: 10.1042/BST20120169

Genes

RAB18

Provenance

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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RAB3GAP1, RAB3GAP2 and RAB18: disease genes in Micro and Martsolf syndromes.PMID 23176487Read ↗

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Hypogonadotropic hypogonadism due to variants in RAB3GAP2: expanding the phenotypic and genotypic spectrum of Martsolf syndrome.Semantic proximity Read ↗

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Micro and Martsolf syndromes in 34 new patients: Refining the phenotypic spectrum and further molecular insights.Semantic proximity Read ↗

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