Biallelic variants in four genes underlying recessive osteogenesis imperfecta.

Volume: 63, Issue: 8, Pages: 103954
Published: Aug 1, 2020
Abstract
null null Osteogenesis imperfecta (OI) is an inherited heterogeneous rare skeletal disorder characterized by increased bone fragility and low bone mass. The disorder mostly segregates in an autosomal dominant manner. However, several rare autosomal recessive and X-linked forms, caused by mutations in 18 different genes, have also been described in the literature. null Here, we present five consanguineous families segregating OI in an autosomal...
Paper Details
Title
Biallelic variants in four genes underlying recessive osteogenesis imperfecta.
Published Date
Aug 1, 2020
Volume
63
Issue
8
Pages
103954
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