Exploring the characteristics and most bothersome symptoms in MECP2 duplication syndrome to pave the path toward developing parent‐oriented outcome measures

BACKGROUND: MECP2 Duplication Syndrome (MDS), resulting from the duplication of Xq28 region, including MECP2, is a rare disorder with a nascent understanding in clinical features and severity. Studies using antisense oligonucleotides revealed a broad phenotypic rescue in transgenic mice. With human...

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Detalles Bibliográficos
Autores principales: Ak, Muharrem, Suter, Bernhard, Akturk, Zekeriya, Harris, Holly, Bowyer, Kristina, Mignon, Laurence, Pasupuleti, Sasidhar, Glaze, Daniel G., Pehlivan, Davut
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9356562/
https://www.ncbi.nlm.nih.gov/pubmed/35702943
http://dx.doi.org/10.1002/mgg3.1989

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