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Rett syndrome in a 47,XXX patient with a de novoMECP2 mutation

โœ Scribed by Hammer, Sara ;Dorrani, Naghmeh ;Hartiala, Jaana ;Stein, Stuart ;Schanen, N. Carolyn

Publisher
John Wiley and Sons
Year
2003
Tongue
English
Weight
62 KB
Volume
122A
Category
Article
ISSN
0148-7299

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Because of the recent identification of several mutations of methyl-CpG-binding protein 2 (MECP2) in patients with Rett syndrome (RTT), a patient with suspected RTT from an autism clinic was screened for mutations. She was found to have a novel heterozygous nonsense mutation, 129C>T (Q19X), which le