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Article

Adams-Oliver syndrome review of the literature: Refining the diagnostic phenotype.

American journal of medical genetics. Part A - 1 Mar 2017

Hassed Susan, Li Shibo, Mulvihill John, Aston Christopher, Palmer Susan

Abstract excerpt

The Adams-Oliver syndrome (AOS) is defined as aplasia cutis congenita (ACC) with transverse terminal limb defects (TTLD). Frequencies of associated anomalies are not well characterized. Six causative genes have been identified: ARHGAP31, DOCK6, EOGT, RBPJ, NOTCH1, and DLL4. We review 385 previously described individuals (139 non-familial and 246 familial probands and family members) and add clinical data on 13...

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Source

Identifiers

PMID: 28160419
DOI: 10.1002/ajmg.a.37889

Genes

ARHGAP31
DLL4
DOCK6
EOGT
NOTCH1
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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Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

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