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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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Autors principals: Ramocki, Melissa B., Tavyev, Y. Jane, Peters, Sarika U.
Format: Artigo
Idioma:Inglês
Publicat: 2010
Matèries:
Accés en línia: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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