A novelCDKL5mutation in a 47,XXY boy with the early-onset seizure variant of Rett syndrome-Reference-Cited by-同舟云学术

A novelCDKL5mutation in a 47,XXY boy with the early-onset seizure variant of Rett syndrome

Published:2009-02 Issue:2 Volume:149A Page:232-236
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Sartori Stefano,Di Rosa Gabriella,Polli Roberta,Bettella Elisa,Tricomi Giovanni,Tortorella Gaetano,Murgia Alessandra

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference30 articles.

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3. Functional consequences of mutations in CDKL5, an X-linked gene involved in infantile spasms and mental retardation;Bertani;J Biol Chem,2006

4. A detailed analysis of the MECP2 gene: Prevalence of recurrent mutations and gross DNA rearrangements in Rett syndrome patients;Bourdon;Hum Genet,2001

5. Diagnostic testing for Rett syndrome by DHPLC and direct sequencing analysis of the MECP2 gene: Identification of several novel mutations and polymorphisms;Buyse;Am J Hum Genet,2000

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