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Cortisol profiles and clinical severity in MECP2 duplication syndrome

BACKGROUND: MECP2 duplication syndrome (MDS) is a rare X-linked genomic disorder primarily affecting males which is caused by interstitial chromosomal duplications at Xq28 encompassing the MECP2 gene. Core clinical features of MDS include choreiform movements, progressive spasticity, recurrent respi...

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Detalles Bibliográficos
Autores principales: Peters, Sarika U., Fu, Cary, Neul, Jeffrey L., Granger, Douglas A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7376951/
https://www.ncbi.nlm.nih.gov/pubmed/32698758
http://dx.doi.org/10.1186/s11689-020-09322-5