Fibroblast growth factor receptor mutations and craniosynostosis: three receptors, five syndromes.
Indian J Pediatr
;
1996 May-Jun; 63(3): 351-6
Artigo
em Inglês
| IMSEAR
| ID: sea-81947
ABSTRACT
The post eighteen months have been exciting time for craniosynostosis research. In a rapid flurry of publications, mutations of fibroblast growth factor receptors (FGFRs) have been identified in three of the best known craniosynostosis syndromes, namely Apert, Crouzon and Pfeiffer syndromes, as well as in Jackson-Weiss syndrome and thanatophoric dysplasia. These findings open many new avenues for craniosynostosis research including studies of diagnosis, pathogenesis, and mutagenesis. Here the major findings and their implications have been briefly reviewed.
Texto completo:
DisponíveL
Índice:
IMSEAR (Sudeste Asiático)
Assunto principal:
Pesquisa
/
Síndrome
/
Humanos
/
Receptores de Fatores de Crescimento de Fibroblastos
/
Craniossinostoses
/
Índia
/
Mutação
Tipo de estudo:
Estudo prognóstico
País/Região como assunto:
Ásia
Idioma:
Inglês
Revista:
Indian J Pediatr
Ano de publicação:
1996
Tipo de documento:
Artigo
Similares
MEDLINE
...
LILACS
LIS