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Article

Diffuse angiopathy in Adams-Oliver syndrome associated with truncating DOCK6 mutations.

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

Lehman Anna, Stittrich Anna-Barbara, Glusman Gustavo, Zong Zheyuan, Li Hong, Eydoux Patrice, Senger Christof, Lyons Christopher, Roach Jared C, Patel Millan

Abstract excerpt

Adams-Oliver syndrome (AOS) is a rare malformation syndrome characterized by the presence of two anomalies: aplasia cutis congenita of the scalp and transverse terminal limb defects. Many affected individuals also have additional malformations, including a variety of intracranial anomalies such as periventricular calcification in keeping with cerebrovascular microbleeds, impaired neuronal migration, epilepsy, and...

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Topics

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Share to Abnormalities, Multiple
Share to Ectodermal Dysplasia

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genes, Recessive

Share to Guanine Nucleotide Exchange Factors

Share to Infant, Newborn

Share to Limb Deformities, Congenital

Share to Mutation

Source

Open in PubMed Open full text

Identifiers

PMID: 25091416
DOI: 10.1002/ajmg.a.36685
PMCID: PMC4167472

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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