A new cohort ofMECP2 mutation screening in unexplained mental retardation: Careful re-evaluation is the best indicator for molecular diagnosis-Reference-Cited by-同舟云学术

A new cohort ofMECP2 mutation screening in unexplained mental retardation: Careful re-evaluation is the best indicator for molecular diagnosis

Published:2006-07-15 Issue:14 Volume:140A Page:1603-1607
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Donzel-Javouhey Anne,Thauvin-Robinet Christel,Cusin Veronica,Madinier Nathalie,Manceau Eric,Dipanda Dominique,Dulieu Véronique,Mugneret Francine,Huet Frédéric,Teyssier Jean-Raymond,Faivre Laurence

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference15 articles.

1. Evidence of somatic mosaicism for a MECP2 mutation in females with Rett syndrome: diagnostic implications

2. MECP2 is highly mutated in X-linked mental retardation

3. A progressive syndrome of autism, dementia, ataxia, and loss of purposeful hand use in girls: Rett's syndrome: Report of 35 cases

4. An update on clinically applicable diagnostic criteria in Rett syndrome

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