Rett Syndrome and Beyond: Recurrent Spontaneous and Familial MECP2 Mutations at CpG Hotspots

Rett syndrome (RTT) is a neurodevelopmental disorder characterized by loss of acquired skills after a period of normal development in infant girls. The responsible gene, encoding methyl-CpG binding protein 2 (MeCP2), was recently discovered. Here we explore the spectrum of phenotypes resulting from...

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Bibliographische Detailangaben
Hauptverfasser: Wan, Mimi, Lee, Stephen Sung Jae, Zhang, Xianyu, Houwink-Manville, Isa, Song, Hae-Ri, Amir, Ruthie E., Budden, Sarojini, Naidu, SakkuBai, Pereira, Jose Luiz P., Lo, Ivan F. M., Zoghbi, Huda Y., Schanen, N. Carolyn, Francke, Uta
Format: Artigo
Sprache:Inglês
Veröffentlicht: The American Society of Human Genetics 1999
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Articles
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC1288362/
https://ncbi.nlm.nih.gov/pubmed/10577905
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