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Article

Mutations in EOGT confirm the genetic heterogeneity of autosomal-recessive Adams-Oliver syndrome.

American journal of human genetics - 4 Apr 2013

Shaheen Ranad, Aglan Mona, Keppler-Noreuil Kim, Faqeih Eissa, Ansari Shinu, Horton Kim, Ashour Adel, Zaki Maha S, Al-Zahrani Fatema, Cueto-González Anna M, Abdel-Salam Ghada, Temtamy Samia, Alkuraya Fowzan S

Abstract excerpt

Adams-Oliver syndrome (AOS) is a rare, autosomal-dominant or -recessive disorder characterized primarily by aplasia cutis congenita and terminal transverse limb defects. Recently, we demonstrated that homozygous mutations in DOCK6 cause an autosomal-recessive form of AOS. In this study, we sought to determine the contribution of DOCK6 mutations to the etiology of AOS in several consanguineous families. In two of...

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Share to Genetic Heterogeneity
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Ectodermal Dysplasia

Share to Guanine Nucleotide Exchange Factors

Share to In Situ Hybridization

Share to Limb Deformities, Congenital

Share to N-Acetylglucosaminyltransferases

Source

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Identifiers

PMID: 23522784
DOI: 10.1016/j.ajhg.2013.02.012
PMCID: PMC3617382

Genes

DOCK6
EOGT
EGF

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

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Mutations in EOGT confirm the genetic heterogeneity of autosomal-recessive Adams-Oliver syndrome.PMID 23522784Read ↗

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