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Achondroplasia. [Lancet. 2007] - PubMed Result
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http://www.ncbi.nlm.nih.gov/sites/entrez?tmpl=NoSidebarfile&...
Submitted by allen 13 months, 1 week, 4 days, 16 hours ago
Achondroplasia is the most common form of short limb dwarfism in human beings, affecting more than 250,000 individuals worldwide. More than 95% of patients have the same point mutation in the gene for fibroblast growth factor receptor 3 (FGFR3) and more than 80% of these are new mutations. The mutation, which causes gain of FGFR3 function, affects many tissues, most strikingly the cartilaginous growth plate in the growing skeleton, leading to a variety of manifestations and complications. The bi
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