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Autor:
Florencia Brito, Catalina Lagos, Jessica Cubillos, Joan Orellana, Mallen Gajardo, Daniela Böhme, Gonzalo Encina, Gabriela M. Repetto
Publikováno v:
Frontiers in Genetics, Vol 15 (2024)
Introduction: Rett syndrome (RTT, MIM #312750) is a rare genetic disorder that leads to developmental regression and severe disability and is caused by pathogenic variants in the MECP2 gene. The diagnosis of RTT is based on clinical features and, dep
Externí odkaz:
https://doaj.org/article/cef374829c294630821a6c5e04ec6889
