Psychomotor Delay in a Child with FGFR3 G380R Pathogenic Mutation Causing Achondroplasia
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Achondroplasia (ACH) is a hereditary disorder of dwarfism that is caused by the aberrant proliferation and differentiation of chondrocyte growth plates. The common findings of macrocephaly and facial anomalies accompany dwarfism in these patients. Fibroblast g... ...
