Rett phenotype with X/autosome translocation: Possible mapping to the short arm of chromosome X-Reference-Cited by-同舟云学术

Rett phenotype with X/autosome translocation: Possible mapping to the short arm of chromosome X

Published:1990-01 Issue:1 Volume:35 Page:142-147
ISSN:0148-7299
Container-title:American Journal of Medical Genetics
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Journal Hubert,Melki Judith,Turleau Catherine,Munnich Arnold,de Grouchy Jean

Publisher

Wiley

Subject

Genetics(clinical)

Reference13 articles.

1. The genetics of rett syndrome: The consequences of a disorder where every case is a new mutation

2. (1983): Replication studies and demonstration of position effect in rearrangements involving the human X chromosome. In (Ed): “Cytogenetics of the Mammalian X Chromosome. Part A:Basic Mechanisms of X chromosome Behavior”. New York: A. R. Liss, pp. 375-403.

3. New experience with rett syndrome in france: The problem of atypical cases

4. “Forme fruste” of rett syndrome - a case report

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1. Phenotypic variability in two infants sharing the same MECP2 mutation: evidence of chromosomal rearrangements and high sister-chromatid exchange levels in Rett syndrome;Acta Neurologica Belgica;2016-07-05

2. Mutations in epilepsy and intellectual disability genes in patients with features of Rett syndrome;American Journal of Medical Genetics Part A;2015-04-25

3. Earlier finishing of Xp21.2 subband replication of the inactive X chromosome in Rett syndrome girl but not in her 47,XXX mother;Clinical Genetics;2008-06-28

4. Rett syndrome: random X chromosome inactivation;Clinical Genetics;2008-06-28

5. X-inactivation in girls with Rett syndrome;Clinical Genetics;2008-06-28