Ocular manifestations of branchio-oculo-facial syndrome: report of a novel mutation and review of the literature.
Mol Vis
; 16: 813-8, 2010 May 08.
Article
em En
| MEDLINE
| ID: mdl-20461149
ABSTRACT
PURPOSE:
To report unusual ocular manifestations of branchio-oculo-facial syndrome (BOFS) caused by a novel mutation in activating enhancer binding protein 2 alpha (TFAP2A).METHODS:
Full ophthalmological evaluation and direct sequencing of TFAP2A.RESULTS:
A 10-year-old girl with unusual ocular manifestations of BOFS such as elliptical shaped microcornea and a novel de novo TFAP2A mutation was identified.CONCLUSIONS:
This report expands the ocular phenotypic spectrum of BOFS and adds to the small number of reported TFAP2A mutations.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Catarata
/
Coloboma
/
Síndrome Brânquio-Otorrenal
/
Córnea
/
Mutação de Sentido Incorreto
/
Fator de Transcrição AP-2
Tipo de estudo:
Prognostic_studies
Limite:
Child
/
Female
/
Humans
Idioma:
En
Ano de publicação:
2010
Tipo de documento:
Article