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Article

Study of autosomal recessive osteogenesis imperfecta in Arabia reveals a novel locus defined by TMEM38B mutation.

Journal of medical genetics - 1 Oct 2012

Shaheen Ranad, Alazami Anas M, Alshammari Muneera J, Faqeih Eissa, Alhashmi Nadia, Mousa Noon, Alsinani Aisha, Ansari Shinu, Alzahrani Fatema, Al-Owain Mohammed, Alzayed Zayed S, Alkuraya Fowzan S

Abstract excerpt

BACKGROUND: Osteogenesis imperfecta (OI) is an hereditary bone disease in which increased bone fragility leads to frequent fractures and other complications, usually in an autosomal dominant fashion. An expanding list of genes that encode proteins related to collagen metabolism are now recognised as important causes of autosomal recessive (AR) OI. Our aim was to study the contribution of known genes to AR OI in...

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PMID: 23054245
DOI: 10.1136/jmedgenet-2012-101142

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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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