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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...
Autores principales: | Peters, Sarika U., Fu, Cary, Neul, Jeffrey L., Granger, Douglas A. |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2020
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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 |
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