Clinical and molecular characteristics of Thai patients with achondroplasia.
Southeast Asian J Trop Med Public Health
;
2001 Jun; 32(2): 429-33
Article
in English
| 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.
Full text:
Available
Index:
IMSEAR (South-East Asia)
Main subject:
Achondroplasia
/
Thailand
/
Protein-Tyrosine Kinases
/
Humans
/
Male
/
Base Sequence
/
Child
/
Polymerase Chain Reaction
/
Receptors, Fibroblast Growth Factor
/
Point Mutation
Type of study:
Prognostic study
Country/Region as subject:
Asia
Language:
English
Journal:
Southeast Asian J Trop Med Public Health
Year:
2001
Type:
Article
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