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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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Bibliografske podrobnosti
Main Authors: Ramocki, Melissa B., Tavyev, Y. Jane, Peters, Sarika U.
Format: Artigo
Jezik:Inglês
Izdano: 2010
Teme:
Online dostop: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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