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Article

Adams-Oliver Syndrome Type 2 in Association with Compound Heterozygous DOCK6 Mutations.

Pediatric dermatology - 1 Sept 2017

Jones Krystal M, Silfvast-Kaiser Annika, Leake David R, Diaz Lucia Z, Levy Moise L

Abstract excerpt

Adams-Oliver syndrome (AOS) is a multiple congenital anomaly syndrome characterized by aplasia cutis congenita (ACC) and transverse terminal limb defects (TTLDs). We present a case of type 2 autosomal recessive AOS associated with heterozygous mutations in the dedicator of cytokinesis 6 (DOCK6) gene, with characteristic findings of ACC, TTLD, intracerebral periventricular calcifications, and polymicrogyria.

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 28884918
DOI: 10.1111/pde.13239

Genes

DOCK6

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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