Clinical and molecular characteristics of Thai patients with achondroplasia.
Southeast Asian J Trop Med Public Health
;
2001 Jun; 32(2): 429-33
Artículo
en Inglés
| 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:
Disponible
Índice:
IMSEAR (Asia Sudoriental)
Asunto principal:
Acondroplasia
/
Tailandia
/
Proteínas Tirosina Quinasas
/
Humanos
/
Masculino
/
Secuencia de Bases
/
Niño
/
Reacción en Cadena de la Polimerasa
/
Receptores de Factores de Crecimiento de Fibroblastos
/
Mutación Puntual
Tipo de estudio:
Estudio pronóstico
País/Región como asunto:
Asia
Idioma:
Inglés
Revista:
Southeast Asian J Trop Med Public Health
Año:
2001
Tipo del documento:
Artículo
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