Recessive and Dominant De Novo ITPR1 Mutations Cause Gillespie Syndrome

Gillespie syndrome (GS) is a rare variant form of aniridia characterized by non-progressive cerebellar ataxia, intellectual disability, and iris hypoplasia. Unlike the more common dominant and sporadic forms of aniridia, there has been no significant association with PAX6 mutations in individuals wi...

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Detalhes bibliográficos
Publicado no:Am J Hum Genet
Main Authors: Gerber, Sylvie, Alzayady, Kamil J., Burglen, Lydie, Brémond-Gignac, Dominique, Marchesin, Valentina, Roche, Olivier, Rio, Marlène, Funalot, Benoit, Calmon, Raphaël, Durr, Alexandra, Gil-da-Silva-Lopes, Vera Lucia, Ribeiro Bittar, Maria Fernanda, Orssaud, Christophe, Héron, Bénédicte, Ayoub, Edward, Berquin, Patrick, Bahi-Buisson, Nadia, Bole, Christine, Masson, Cécile, Munnich, Arnold, Simons, Matias, Delous, Marion, Dollfus, Helene, Boddaert, Nathalie, Lyonnet, Stanislas, Kaplan, Josseline, Calvas, Patrick, Yule, David I., Rozet, Jean-Michel, Fares Taie, Lucas
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2016
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Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4863566/
https://ncbi.nlm.nih.gov/pubmed/27108797
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2016.03.004
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