Characterization of large deletions of the MECP2 gene in Rett syndrome patients by gene dosage analysis

BACKGROUND: Rett syndrome (RTT) is a developmental disorder with an early onset and X‐linked dominant inheritance pattern. It is first recognized in infancy and is seen almost always in girls, but it may be seen in boys on rare occasions. Typical RTT is caused by de novo mutations of the gene MECP2...

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Detalles Bibliográficos
Autores principales: Vidal, Silvia, Pascual‐Alonso, Ainhoa, Rabaza‐Gairí, Marc, Gerotina, Edgar, Brandi, Nuria, Pacheco, Paola, Xiol, Clara, Pineda, Mercè, Armstrong, Judith
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2019
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6687651/
https://www.ncbi.nlm.nih.gov/pubmed/31206249
http://dx.doi.org/10.1002/mgg3.793

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6687651/
https://www.ncbi.nlm.nih.gov/pubmed/31206249
http://dx.doi.org/10.1002/mgg3.793

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