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Article

Genotypic and Phenotypic Spectrum and Pathogenesis of WNT1 Variants in a Large Cohort of Patients With OI/Osteoporosis.

The Journal of clinical endocrinology and metabolism - 16 Jun 2023

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

Abstract excerpt

CONTEXT: Mutations in WNT1 can cause rare inherited disorders such as osteogenesis imperfecta (OI) and early-onset osteoporosis (EOOP). Owing to its rarity, the clinical characteristics and pathogenic mechanism of WNT1 mutations remain unclear. OBJECTIVE: We aimed to explore the phenotypic and genotypic spectrum and treatment responses of a large cohort of patients with WNT1-related OI/OP and the molecular...

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Identifiers

PMID: 36595228
DOI: 10.1210/clinem/dgac752
PMCID: PMC10271228

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