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A Novel MECP2 Mutation in a Boy with Neonatal Encephalopathy and Facial Dysmorphism

✍ Scribed by Kristina Jülich; Denise Horn; Peter Burfeind; Thomas Erler; Bernd Auber


Book ID
113745152
Publisher
Elsevier Science
Year
2009
Tongue
English
Weight
288 KB
Volume
155
Category
Article
ISSN
1097-6833

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Novel de novo nonsense mutation of MECP2
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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