Article
Homozygous Truncating Variants in TBC1D23 Cause Pontocerebellar Hypoplasia and Alter Cortical Development.
American journal of human genetics - 7 Sept 2017
Ivanova Ekaterina L, Mau-Them Frédéric Tran, Riazuddin Saima, Kahrizi Kimia, Laugel Vincent, Schaefer Elise, de Saint Martin Anne, Runge Karen, Iqbal Zafar, Spitz Marie-Aude, Laura Mary, Drouot Nathalie, Gérard Bénédicte, Deleuze Jean-François, de Brouwer Arjan P M, Razzaq Attia, Dollfus Hélène, Assir Muhammad Zaman, Nitchké Patrick, Hinckelmann Maria-Victoria, Ropers Hilger, Riazuddin Sheikh, Najmabadi Hossein, van Bokhoven Hans, Chelly Jamel
Abstract excerpt
Pontocerebellar hypoplasia (PCH) is a heterogeneous group of rare recessive disorders with prenatal onset, characterized by hypoplasia of pons and cerebellum. Mutations in a small number of genes have been reported to cause PCH, and the vast majority of PCH cases are explained by mutations in TSEN54, which encodes a subunit of the tRNA splicing endonuclease complex. Here we report three families with homozygous...
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