Recessive Mutations in DOCK6, Encoding the Guanidine Nucleotide Exchange Factor DOCK6, Lead to Abnormal Actin Cytoskeleton Organization and Adams-Oliver Syndrome

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,...

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書誌詳細
主要な著者: Shaheen, Ranad, Faqeih, Eissa, Sunker, Asma, Morsy, Heba, Al-Sheddi, Tarfa, Shamseldin, Hanan E., Adly, Nouran, Hashem, Mais, Alkuraya., Fowzan S.
フォーマット: Artigo
言語:Inglês
出版事項: Elsevier 2011
主題:
Report
オンライン･アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC3155174/
https://ncbi.nlm.nih.gov/pubmed/21820096
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2011.07.009
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