Premature ovarian failure and forkhead transcription factor FOXL2: blepharophimosis-ptosis-epicanthus inversus syndrome and ovarian dysfunction.
Pediatr Endocrinol Rev
; 2(4): 653-60, 2005 Jun.
Article
em En
| MEDLINE
| ID: mdl-16208278
ABSTRACT
Recently the molecular basis of the blepharophimosis-ptosis-epicanthus inversus-syndrome (BPES), an autosomal dominant developmental disorder of the eyelids and ovary, was elucidated. This syndromic form of premature ovarian failure (POF) is caused by mutations in the gene encoding the forkhead transcription factor FOXL2. In this manuscript we review the clinical features of BPES, its molecular basis, the structural and functional characteristics of the FOXL2 gene and protein, and known animal models.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Blefaroptose
/
Blefarofimose
/
Insuficiência Ovariana Primária
/
Fatores de Transcrição Forkhead
Tipo de estudo:
Prognostic_studies
Limite:
Animals
/
Child
/
Female
/
Humans
Idioma:
En
Revista:
Pediatr Endocrinol Rev
Assunto da revista:
ENDOCRINOLOGIA
/
PEDIATRIA
Ano de publicação:
2005
Tipo de documento:
Article
País de afiliação:
Bélgica