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Article

A novel variant in DOCK6 gene associated with Adams-Oliver syndrome type 2.

Ophthalmic genetics - 1 Aug 2020

Alzahem Tariq, Alsalamah Abrar K, Mura Marco, Alsulaiman Sulaiman M

Abstract excerpt

BACKGROUND: Adams-Oliver syndrome (AOS) is a rare, inherited multi-systemic malformation syndrome characterized by a combination of aplasia cutis congenita and transverse terminal limb defects along with variable involvement of the central nervous system, eyes, and cardiovascular system. AOS can be inherited as both autosomal-dominant and recessive traits. Pathogenic variants in the DOCK6, ARHGAP31, EOGT, RBPJ,...

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Identifiers

PMID: 32498638
DOI: 10.1080/13816810.2020.1776339

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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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A novel variant in DOCK6 gene associated with Adams-Oliver syndrome type 2.PMID 32498638Read ↗

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