Achondroplasia: Clinical, Radiological and Molecular Profile from Rare Disease Centre, India
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Achondroplasia is the most common autosomal dominant form of skeletal dysplasia and is caused by heterozygous mutations of the fibroblast growth factor receptor 3 ( FGFR3 ) gene at region 4p16.3. This study highlights the data of achondroplasia cases, clinical... ...
