Analysis of the parental origin of de novo MECP2 mutations and X chromosome inactivation in fifteen sporadic cases with Rett syndrome
OBJECTIVE: Rett syndrome (RTT) is a neurodevelopmental disorder occurring almost exclusively in females as sporadic cases due to de novo mutations in the methyl-CpG-binding protein 2 gene (MECP2). Familial cases of RTT are rare and are due to X-chromosomal inheritance from a carrier mother. Recently...
| Publié dans: | Zhonghua er ke za zhi = Chinese journal of pediatrics. - 1960. - 47(2009), 8 vom: 02. Aug., Seite 565-9 |
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| Auteur principal: | |
| Autres auteurs: | , , , , |
| Format: | Article |
| Langue: | Chinese |
| Publié: |
2009
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| Accès à la collection: | Zhonghua er ke za zhi = Chinese journal of pediatrics |
| Sujets: | English Abstract Journal Article Methyl-CpG-Binding Protein 2 |