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Achondroplasia

Achondroplasia. By Kait Keaveny. Achondroplasia. Autosomal Dominant Disorder. Affects about 1 in 25,000 people. About 98% of those with achondroplasia have a point mutation in the FGFR3 gene at 4p16.3 that encodes fibroblast growth factor receptor 3. . The penetrance of the gene is 100%

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Achondroplasia