Homozygous Truncating Variants in TBC1D23 Cause Pontocerebellar Hypoplasia and Alter Cortical Development

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...

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Publicado en:Am J Hum Genet
Main Authors: 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
Formato: Artigo
Idioma:Inglês
Publicado: Elsevier 2017
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Article
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC5590842/
https://ncbi.nlm.nih.gov/pubmed/28823707
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2017.07.010
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