Clinical and molecular characteristics of Thai patients with achondroplasia.
Southeast Asian J Trop Med Public Health
;
2001 Jun; 32(2): 429-33
Artigo
em Inglês
| IMSEAR
| ID: sea-34657
ABSTRACT
Achondroplasia is an autosomal dominant disorder characterized by disproportionately short stature, frontal bossing, rhizomelia, and trident hands. Most patients appear sporadically resulting from a de novo mutation associated with advanced paternal age. A glycine to arginine mutation at codon 380 (G380R) of the fibroblast growth factor receptor 3 gene (FGFR3) was found to be the most common cause of achondroplasia in various populations. We identified and clinically characterized 3 Thai patients with achondroplasia. In all of them, we also successfully identified the G380R mutation supporting the observation that this is the most common mutation in achondroplasia across different ethnic groups including Thai.
Texto completo:
DisponíveL
Índice:
IMSEAR (Sudeste Asiático)
Assunto principal:
Acondroplasia
/
Tailândia
/
Proteínas Tirosina Quinases
/
Humanos
/
Masculino
/
Sequência de Bases
/
Criança
/
Reação em Cadeia da Polimerase
/
Receptores de Fatores de Crescimento de Fibroblastos
/
Mutação Puntual
Tipo de estudo:
Estudo prognóstico
País/Região como assunto:
Ásia
Idioma:
Inglês
Revista:
Southeast Asian J Trop Med Public Health
Ano de publicação:
2001
Tipo de documento:
Artigo
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