Further case of Rubinstein-Taybi syndrome due to a deletion in EP300.
Am J Med Genet A
; 149A(5): 997-1000, 2009 May.
Article
en En
| MEDLINE
| ID: mdl-19353645
ABSTRACT
Rubinstein-Taybi syndrome (RSTS) is a heterogeneous disorder with approximately 45-55% of patients showing mutations in the CREB binding protein and a further 3% of patients having mutations in EP300. We report a male child with a deletion of exons 3-8 of the EP300 gene who has RSTS. He has a milder skeletal phenotype, a finding that has been described in other cases with EP300 mutations. The mother suffered from pre-eclampsia and HELLP syndrome in the pregnancy. She subsequently developed a mullerian tumor of her cervix 6 years after the birth of her son.
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Síndrome de Rubinstein-Taybi
/
Proteína p300 Asociada a E1A
Límite:
Child
/
Humans
/
Male
Idioma:
En
Revista:
Am J Med Genet A
Asunto de la revista:
GENETICA MEDICA
Año:
2009
Tipo del documento:
Article
País de afiliación:
Irlanda