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Article

DOCK6 mutations are responsible for a distinct autosomal-recessive variant of Adams-Oliver syndrome associated with brain and eye anomalies.

Human mutation - 1 Jun 2015

Sukalo Maja, Tilsen Felix, Kayserili Hülya, Müller Dietmar, Tüysüz Beyhan, Ruddy Deborah M, Wakeling Emma, Ørstavik Karen Helene, Snape Katie M, Trembath Richard, De Smedt Maryse, van der Aa Nathalie, Skalej Martin, Mundlos Stefan, Wuyts Wim, Southgate Laura, Zenker Martin

Abstract excerpt

Adams-Oliver syndrome (AOS) is characterized by the association of aplasia cutis congenita with terminal transverse limb defects, often accompanied by additional cardiovascular or neurological features. Both autosomal-dominant and autosomal-recessive disease transmission have been observed, with...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Genes, Recessive

Share to Guanine Nucleotide Exchange Factors

Share to Limb Deformities, Congenital

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Source

Identifiers

PMID: 25824905
DOI: 10.1002/humu.22795

Genes

DOCK6
EOGT

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-25824905-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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DOCK6 mutations are responsible for a distinct autosomal-recessive variant of Adams-Oliver syndrome associated with brain and eye anomalies.PMID 25824905Read ↗

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