Mutations in EOGT Confirm the Genetic Heterogeneity of Autosomal-Recessive Adams-Oliver Syndrome

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...

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Autori principali: 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.
Natura: Artigo
Lingua:Inglês
Pubblicazione: Elsevier 2013
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC3617382/
https://ncbi.nlm.nih.gov/pubmed/23522784
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2013.02.012
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