Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Recessive mutations in DOCK6, encoding the guanidine nucleotide exchange factor DOCK6, lead to abnormal actin cytoskeleton organization and Adams-Oliver syndrome.

American journal of human genetics - 12 Aug 2011

Shaheen Ranad, Faqeih Eissa, Sunker Asma, Morsy Heba, Al-Sheddi Tarfa, Shamseldin Hanan E, Adly Nouran, Hashem Mais, Alkuraya Fowzan S

Abstract excerpt

Adams-Oliver syndrome (AOS) is defined by the combination of aplasia cutis congenita (ACC) and terminal transverse limb defects (TTLD). It is usually inherited as an autosomal-dominant trait, but autosomal-recessive inheritance has also been documented. In an individual with autosomal-recessive AOS, we combined autozygome analysis with exome sequencing to identify a homozygous truncating mutation in dedicator of...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Actins
Share to Cytoskeleton

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Ectodermal Dysplasia

Share to Embryonic Development

Share to Fibroblasts

Share to Genes, Recessive

Share to Guanine Nucleotide Exchange Factors

Share to Limb Deformities, Congenital

Source

Open in PubMed Open full text

Identifiers

PMID: 21820096
DOI: 10.1016/j.ajhg.2011.07.009
PMCID: PMC3155174

Genes

DOCK6
ARHGAP31

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Recessive mutations in DOCK6, encoding the guanidine nucleotide exchange factor DOCK6, lead to abnormal actin cytoskeleton organization and Adams-Oliver syndrome.PMID 21820096Read ↗

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

Aplasia cutis congenita in a CDC42-related developmental phenotype.Semantic proximity Read ↗

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

Gain-of-function mutations of ARHGAP31, a Cdc42/Rac1 GTPase regulator, cause syndromic cutis aplasia and limb anomalies.Semantic proximity Read ↗

Mutations in EOGT confirm the genetic heterogeneity of autosomal-recessive Adams-Oliver syndrome.Semantic proximity Read ↗

Adams-Oliver Syndrome Type 2 in Association with Compound Heterozygous DOCK6 Mutations.Semantic proximity Read ↗

Adams-Oliver syndrome review of the literature: Refining the diagnostic phenotype.Semantic proximity Read ↗

Diffuse angiopathy in Adams-Oliver syndrome associated with truncating DOCK6 mutations.Semantic proximity Read ↗

Systemic Inflammation and Normocytic Anemia in DOCK11 DeficiencySemantic proximity Read ↗

Elucidating the genetic architecture of Adams-Oliver syndrome in a large European cohort.Semantic proximity Read ↗

Mutations in NOTCH1 cause Adams-Oliver syndrome.Semantic proximity Read ↗

DOCK7 regulates WNT signaling and NMJ clustering in normal and DMD muscleSemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.