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The MECP2 Duplication Syndrome

In this review, we detail the history, molecular diagnosis, epidemiology, and clinical features of the MECP2 duplication syndrome, including considerations for the care of patients with this X-linked neurodevelopmental disorder. MECP2 duplication syndrome is 100% penetrant in affected males and is a...

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Enregistré dans:
Détails bibliographiques
Auteurs principaux: Ramocki, Melissa B., Tavyev, Y. Jane, Peters, Sarika U.
Format: Artigo
Langue:Inglês
Publié: 2010
Sujets:
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC2861792/
https://ncbi.nlm.nih.gov/pubmed/20425814
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.33184
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