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Article

Isolated terminal limb reduction defects: extending the clinical spectrum of Adams-Oliver syndrome and ARHGAP31 mutations.

American journal of medical genetics. Part A - 1 Jun 2014

Isrie Mala, Wuyts Wim, Van Esch Hilde, Devriendt Koenraad

Abstract excerpt

Adams-Oliver syndrome (AOS; OMIM 100300) typically comprises a combination of congenital scalp defects and terminal transverse limb defects. Recently, mutations in ARHGAP31 and RBPJ have been found causing autosomal dominant forms of AOS. We describe a four-generation pedigree with isolated terminal limb defects and a truncating mutation in ARHGAP31. This finding underscores the relevance of sequencing ARHGAP31...

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Source

Identifiers

PMID: 24668619
DOI: 10.1002/ajmg.a.36486

Genes

ARHGAP31
RBPJ

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.

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