The utility of Next Generation Sequencing for molecular diagnostics in Rett syndrome

Rett syndrome (RTT) is an early-onset neurodevelopmental disorder that almost exclusively affects girls and is totally disabling. Three genes have been identified that cause RTT: MECP2, CDKL5 and FOXG1. However, the etiology of some of RTT patients still remains unknown. Recently, next generation se...

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Enregistré dans:
Détails bibliographiques
Publié dans:Sci Rep
Auteurs principaux: Vidal, Silvia, Brandi, Núria, Pacheco, Paola, Gerotina, Edgar, Blasco, Laura, Trotta, Jean-Rémi, Derdak, Sophia, del Mar O’Callaghan, Maria, Garcia-Cazorla, Àngels, Pineda, Mercè, Armstrong, Judith
Format: Artigo
Langue:Inglês
Publié: Nature Publishing Group UK 2017
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Article
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC5613000/
https://ncbi.nlm.nih.gov/pubmed/28947817
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41598-017-11620-3
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