Achondroplasia: a comprehensive clinical review
نویسندگان
چکیده
منابع مشابه
Clinical management of achondroplasia.
Achondroplasia, one of the skeletal dysplasias and the commonest form of disproportionate short stature, has a different developmental and growth profile compared to average stature children. In addition, a specific group of complications occur more frequently in children with achondroplasia. These include common but usually relatively minor complications such as recurrent otitis media, and rar...
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Achondroplasia and related chondrodysplasias are caused by heterozygous mutations of fibroblast growth factor receptor 3 (FGFR3). Virtually all patients with achondroplasia have the same mutation, and all of the FGFR3 mutations activate the FGFR3 signal transduction pathways. There is remarkable correlation between specific mutations and the severity of clinical phenotypes manifestations. The m...
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ژورنال
عنوان ژورنال: Orphanet Journal of Rare Diseases
سال: 2019
ISSN: 1750-1172
DOI: 10.1186/s13023-018-0972-6