Bi-allelic CCDC47 Variants Cause a Disorder Characterized by Woolly Hair, Liver Dysfunction, Dysmorphic Features, and Global Developmental Delay.

TitleBi-allelic CCDC47 Variants Cause a Disorder Characterized by Woolly Hair, Liver Dysfunction, Dysmorphic Features, and Global Developmental Delay.
Publication TypeJournal Article
AuthorsMorimoto, M, Waller-Evans, H, Ammous, Z, Song, X, Strauss, KA, Pehlivan, D, Gonzaga-Jauregui, C, Puffenberger, EG, Holst, CR, Karaca, E, Brigatti, KW, Maguire, E, Coban-Akdemir, ZH, Amagata, A, C Lau, C, Chepa-Lotrea, X, Macnamara, E, Tos, T, Isikay, S, Nehrebecky, M, Overton, JD, Klein, M, Markello, TC, Posey, JE, Adams, DR, Lloyd-Evans, E, Lupski, JR, Gahl, WA, Malicdan, MChristine
PubMed ID30401460
PubMed Central IDPMC6218603
Grant ListK08 HG008986 / HG / NHGRI NIH HHS / United States
UM1 HG006542 / HG / NHGRI NIH HHS / United States