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Achondroplasia
10%
190/1958
Hypochondroplasia
4%
69/1958
Multiple hereditary exostosis
13%
248/1958
Fibrous dysplasia
66%
1295/1958
Neurofibromatosis type I
8%
151/1958
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The genetic defect in fibrous dysplasia involves a G protein that affects the cAMP signaling pathway. The first references by Lietman et al mentions a novel technique using a polymerase chain reaction to detect mutations in genomic DNA from peripheral blood cells in patients with fibrous dysplasia. The second reference by DiCaprio et al is a review article describing the pathophysiology, evaluation, and treatment of fibrous dysplasia. Achondroplasia and hypochondroplasia are caused by a mutation in the FGFR3 gene. Multiple hereditary exostosis is caused by a mutation in the EXT1 gene. Neurofibromatosis involves a mutation in the NF1 gene that codes for neurofibromin.
3.1
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