mutations are associated with intellectual disability, leukoencephalopathy, and nephropathy.
作者信息
de Paiva Anderson Rodrigues Brandão, Lynch David S, Melo Uirá Souto, Lucato Leandro Tavares, Freua Fernando, de Assis Bruno Della Ripa, Barcelos Isabella, Listik Clarice, de Castro Dos Santos Diego, Macedo-Souza Lúcia Inês, Houlden Henry, Kok Fernando
机构信息
Neurogenetics Unit (A.R.B.d.P., F.F., B.D.R.d.A., I.B., C.L., D.d.C.d.S., F.K.), Neurology Department, Hospital das Clínicas da Universidade de São Paulo, Brazil; Department of Molecular Neuroscience (D.S.L., H.H.), UCL Institute of Neurology, London, UK; Leonard Wolfson Experimental Neurology Centre (D.S.L., H.H.), UCL Institute of Neurology, London, UK; Human Genome and Stem Cell Research Center (U.S.M., L.I.M.-S., F.K.), Department of Genetics and Evolutionary Biology, Instituto de Biociências, Universidade de São Paulo, Brazil; and Neuroradiology Section (L.T.L.), Hospital das Clínicas da Universidade de São Paulo, Brazil.
出版信息
Neurol Genet. 2019 Jan 16;5(1):e306. doi: 10.1212/NXG.0000000000000306. eCollection 2019 Feb.
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