Article
Whole exome sequencing of Rett syndrome-like patients reveals the mutational diversity of the clinical phenotype.
Human genetics - 1 Dec 2016
Lucariello Mario, Vidal Enrique, Vidal Silvia, Saez Mauricio, Roa Laura, Huertas Dori, Pineda Mercè, Dalfó Esther, Dopazo Joaquin, Jurado Paola, Armstrong Judith, Esteller Manel
Abstract excerpt
Classical Rett syndrome (RTT) is a neurodevelopmental disorder where most of cases carry MECP2 mutations. Atypical RTT variants involve mutations in CDKL5 and FOXG1. However, a subset of RTT patients remains that do not carry any mutation in the described genes. Whole exome sequencing was carried out in a cohort of 21 female probands with clinical features overlapping with those of RTT, but without mutations in...
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