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Article

The role of WNT1 mutant variant (WNT1c.677C>T ) in osteogenesis imperfecta.

Annals of human genetics - 1 Nov 2020

Zhang Bashan, Li Rong, Wang Wenfeng, Zhou Xueming, Luo Beijing, Zhu Zinian, Zhang Xibo, Ding Aijiao

Abstract excerpt

Osteogenesis imperfecta (OI), also known as "brittle bone disease," is a rare inherited genetic disorder characterized by bone fragility and often associated with short stature. The mutation in WNT1 causes autosomal recessive OI (AR-OI) due to the key role of WNT/β-catenin signaling in bone formation. WNT1 mutations cause phenotypes in OI of varying degrees of clinical severity, ranging from moderate to...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 32757296
DOI: 10.1111/ahg.12399
PMCID: PMC7590185

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