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Article

Splicing defect in FKBP10 gene causes autosomal recessive osteogenesis imperfecta disease: a case report.

BMC medical genetics - 25 May 2018

Maghami Fatemeh, Tabei Seyed Mohammad Bagher, Moravej Hossein, Dastsooz Hassan, Modarresi Farzaneh, Silawi Mohammad, Faghihi Mohammad Ali

Abstract excerpt

BACKGROUND: Osteogenesis imperfecta (OI) is a group of connective tissue disorder caused by mutations of genes involved in the production of collagen and its supporting proteins. Although the majority of reported OI variants are in COL1A1 and COL1A2 genes, recent reports have shown problems in other non-collagenous genes involved in the post translational modifications, folding and transport, transcription and...

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Identifiers

PMID: 29801479
DOI: 10.1186/s12881-018-0579-8
PMCID: PMC5970456

Genes

FKBP10

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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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Splicing defect in FKBP10 gene causes autosomal recessive osteogenesis imperfecta disease: a case report.PMID 29801479Read ↗

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