Molecular analysis of the Noggin (NOG) gene in holoprosencephaly patients.
Mol Genet Metab
; 106(2): 241-3, 2012 Jun.
Article
em En
| MEDLINE
| ID: mdl-22503063
ABSTRACT
Holoprosencephaly (HPE) is the most common structural anomaly of the human forebrain. Various genetic and teratogenic causes have been implicated in its pathogenesis. A recent report in mice described Noggin (NOG) as a candidate gene involved in the etiogenesis of microform HPE. Here, we present for the first time genetic analysis of a large HPE cohort for sequence variations in NOG. On the basis of our study, we conclude that mutations in the coding region of NOG are rare, and play at most an uncommon role in human HPE.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Proteínas de Transporte
/
Holoprosencefalia
Limite:
Humans
Idioma:
En
Ano de publicação:
2012
Tipo de documento:
Article