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Article

Novel variant in Sp7/Osx associated with recessive osteogenesis imperfecta with bone fragility and hearing impairment.

Bone - 1 May 2018

Fiscaletti Melissa, Biggin Andrew, Bennetts Bruce, Wong Karen, Briody Julie, Pacey Verity, Birman Catherine, Munns Craig F

Abstract excerpt

Osteogenesis imperfecta (OI) is a connective tissue disorder characterized by low bone density and recurrent fractures with a wide genotypic and phenotypic spectrum. Common features include short stature, opalescent teeth, blue sclerae and hearing impairment. The majority (>90%) of patients with OI have autosomal dominant variants in COL1A1/COL1A2, which lead to defects in type 1 collagen. More recently, numerous...

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PMID: 29382611
DOI: 10.1016/j.bone.2018.01.031

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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