Examples of achondroplasia
Mary Russell, 44, from London, who suffers from achondroplasia, sobbed as she told of the impact her condition has had on her quest for love.
(Daily Mail - Femail, )
Gain-of-function mutations in the fibroblast growth factor receptor 3 gene (FGFR3) result in skeletal dysplasias, such as thanatophoric dysplasia and achondroplasia (ACH).
BioMarin Pharmaceutical says that in its preliminary study, 10 children with achondroplasia who got the highest doses of vosoritide grew at an average rate of 2.4 inches a year.
(The New York Times - Health, )
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