Biallelic Mutations in UNC80 Cause Persistent Hypotonia, Encephalopathy, Growth Retardation, and Severe Intellectual Disability.

TitleBiallelic Mutations in UNC80 Cause Persistent Hypotonia, Encephalopathy, Growth Retardation, and Severe Intellectual Disability.
Publication TypeJournal Article
AuthorsStray-Pedersen, A, Cobben, J-M, Prescott, TE, Lee, S, Cang, C, Aranda, K, Ahmed, S, Alders, M, Gerstner, T, Aslaksen, K, Tétreault, M, Qin, W, Hartley, T, Jhangiani, SN, Muzny, DM, Tarailo-Graovac, M, van Karnebeek, CDM, Lupski, JR, Ren, D, Yoon, G
Corporate AuthorsCare4Rare Canada Consortium, Baylor-Hopkins Center for Mendelian Genomics
PubMed ID26708751
PubMed Central IDPMC4716670
Grant ListNS074257 / NS / NINDS NIH HHS / United States
R01 NS055293 / NS / NINDS NIH HHS / United States
U54 HG006542 / HG / NHGRI NIH HHS / United States
U54HG006542 / HG / NHGRI NIH HHS / United States
NS055293 / NS / NINDS NIH HHS / United States
/ / Canadian Institutes of Health Research / Canada
R01 NS074257 / NS / NINDS NIH HHS / United States