De novo mosaic MECP2 mutation in a female with Rett syndrome.
Clin Case Rep
; 7(2): 366-370, 2019 Feb.
Article
em En
| MEDLINE
| ID: mdl-30847208
ABSTRACT
We describe a female with Rett syndrome carrying a rare de novo mosaic nonsense mutation on MECP2 gene, with random X-chromosome inactivation. Rett syndrome severity in females depends on mosaicism level and tissue specificity, X-chromosome inactivation, epigenetics and environment. Rett syndrome should be considered in both males and females.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Idioma:
En
Revista:
Clin Case Rep
Ano de publicação:
2019
Tipo de documento:
Article