Autosomal Dominant Osteopetrosis Type II.

Abstract excerpt

Osteopetrosis is a rare genetic disorder caused by osteoclast failure. Dominant negative mutations of the ClCN7 gene cause the so-called, autosomal dominant osteopetrosis type II, which represents the most frequent and heterogeneous form of osteopetrosis, ranging from asymptomatic to intermediate-severe, thus suggesting additional genetic and environmental determinants affecting penetrance. Here, we present a...

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