Achondroplasia: A form of disproportionate dwarfism - A case report
Achondroplasia is a genetic disorder that is due to mutation of fibroblast growth factor receptor (FGFR3) gene and it results in dwarfism. It is inherited as an autosomal dominant trait. The classical clinical features seen are disproportionate dwarfism, rhizomelic shortening (proximal limbs), short...
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Wolters Kluwer Medknow Publications,
2020-01-01T00:00:00Z.
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A1234.567 |
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