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Article

Epileptic Encephalopathy in Adams-Oliver Syndrome Associated to a New DOCK6 Mutation: A Peculiar Behavioral Phenotype.

Neuropediatrics - 1 Jun 2018

Pisciotta Livia, Capra Valeria, Accogli Andrea, Giacomini Thea, Prato Giulia, Tavares Purificação, Pinto-Basto Jorge, Morana Giovanni, Mancardi Maria Margherita

Abstract excerpt

Adams-Oliver syndrome (AOS) is characterized by a combination of congenital scalp defects (aplasia cutis congenita) and terminal transverse limb malformations of variable severity. When neurological findings are present, patients are reported as AOS variants. We describe a child with compound heterozygosity of the DOCK6 gene, aplasia cutis, terminal transverse limb defects, cardiovascular impairment, intellectual...

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Source

Identifiers

PMID: 29631299
DOI: 10.1055/s-0038-1639372

Genes

DOCK6

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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Epileptic Encephalopathy in Adams-Oliver Syndrome Associated to a New DOCK6 Mutation: A Peculiar Behavioral Phenotype.PMID 29631299Read ↗

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