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Article

Genetic Analysis, Phenotypic Spectrum and Functional Study of Rare Osteogenesis Imperfecta Caused by CRTAP Variants.

The Journal of clinical endocrinology and metabolism - 17 Jun 2024

Zhou Bingna, Gao Peng, Hu Jing, Lin Xiaoyun, Sun Lei, Zhang Qian, Jiang Yan, Wang Ou, Xia Weibo, Xing Xiaoping, Li Mei

Abstract excerpt

OBJECTIVE: Deficiency of cartilage-associated protein (CRTAP) can cause extremely rare autosomal recessive osteogenesis imperfecta (OI) type VII. We investigated the pathogenic mechanisms of CRTAP variants through functional studies on bones of patients with OI. METHODS: Two nonconsanguineous families with CRTAP mutations were included and their phenotypes and genotypes were evaluated. Bone specimens were...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 38214665
DOI: 10.1210/clinem/dgae025
PMCID: PMC11180511

Genes

CRTAP

Provenance

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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