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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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Dades bibliogràfiques
Publicat a:J Neurodev Disord
Autors principals: Peters, Sarika U., Fu, Cary, Neul, Jeffrey L., Granger, Douglas A.
Format: Artigo
Idioma:Inglês
Publicat: BioMed Central 2020
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC7376951/
https://ncbi.nlm.nih.gov/pubmed/32698758
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s11689-020-09322-5
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