Whole exome sequencing of Rett syndrome-like patients reveals the mutational diversity of the clinical phenotype

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 ou...

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Bibliographische Detailangaben
Veröffentlicht in:Hum Genet
Hauptverfasser: Lucariello, Mario, Vidal, Enrique, Vidal, Silvia, Saez, Mauricio, Roa, Laura, Huertas, Dori, Pineda, Mercè, Dalfó, Esther, Dopazo, Joaquin, Jurado, Paola, Armstrong, Judith, Esteller, Manel
Format: Artigo
Sprache:Inglês
Veröffentlicht: Springer Berlin Heidelberg 2016
Schlagworte:
Original Investigation
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5065581/
https://ncbi.nlm.nih.gov/pubmed/27541642
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s00439-016-1721-3
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