Autosomal Dominant Disorders

An example of an autosomal dominant disorder is achondroplasia, the most common form of short-limbed dwarfism in humans. Achondroplasia displays complete penetrance (everyone with the genetic defect also has the disorder), and it occurs in 1 out of 25,000 births. Most cases are sporadic rather than inherited.

Achondroplasia is a growth disorder caused by a mutation of the gene that encodes the fibroblast growth factor receptor 3 (FGFR3), and it is sporadic caused by new mutations

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