Severe congenital encephalopathy caused by MECP2 null mutations in males: central hypoxia and reduced neuronal dendritic structure-Reference-Cited by-同舟云学术

Severe congenital encephalopathy caused by MECP2 null mutations in males: central hypoxia and reduced neuronal dendritic structure

Published:2008-05-09 Issue:2 Volume:74 Page:116-126
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:

Author:

Schüle B,Armstrong DD,Vogel H,Oviedo A,Francke U

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1399-0004.2008.01005.x/fullpdf

Reference49 articles.

1. Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2;Amir;Nat Genet,1999

2. Rett syndrome and beyond: recurrent spontaneous and familial MECP2 mutations at CpG hotpots;Wan;Am J Hum Genet,1999

3. High male:female ratio of germ-line mutations: an alternative explanation for postulated gestational lethality in males in X-linked dominant disorders;Thomas;Am J Hum Genet,1996

4. MECP2 mutations in sporadic cases of Rett syndrome are almost exclusively of paternal origin;Trappe;Am J Hum Genet,2001

5. Parental origin of de novo MECP2 mutations in Rett syndrome;Girard;Eur J Hum Genet,2001

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