Bi-allelic CCDC47 Variants Cause a Disorder Characterized by Woolly Hair, Liver Dysfunction, Dysmorphic Features, and Global Developmental Delay
Marie Morimoto(Office of the Director), May Christine V. Malicdan(National Institutes of Health), Jennifer E. Posey(Baylor College of Medicine), Erik G. Puffenberger(Clinic for Special Children), David R. Adams(National Human Genome Research Institute), Tülay Tos(Dr Sami Ulus Çocuk Sağlığı ve Hastalıkları Eğitim ve Araştırma Hastanesi), Karlla W. Brigatti(Clinic for Special Children), Kevin A. Strauss(Clinic for Special Children), Davut Pehli̇van(Baylor College of Medicine), John D. Overton(Yale University), Emyr Lloyd‐Evans(Cardiff University), Thomas C. Markello(National Human Genome Research Institute), Charles R. Holst(BioElectronics (United States)), Helen Waller‐Evans(Cardiff University), Emily Maguire(Cardiff University), Sedat Işıkay(Gaziantep İslam Bilim ve Teknoloji Üniversitesi), Zeynep Coban‐Akdemir(Baylor College of Medicine), Akiko Amagata(BioElectronics (United States)), Zineb Ammous, Ender Karaca(Baylor College of Medicine), Michele Nehrebecky(Rady Children's Hospital-San Diego), Claudia Gonzaga‐Jauregui(Case Western Reserve University), William A. Gahl(National Institute of Child Health), Xiaofei Song(Jiangsu University), Matthew B. Klein(BioElectronics (United States)), Xenia Chepa-Lotrea(National Institutes of Health), Ellen F. Macnamara(National Human Genome Research Institute), C. Christopher Lau(Office of the Director), James R. Lupski(Baylor College of Medicine)
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