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Genetic Analysis and Functional Study of a Pedigree With Bruck Syndrome Caused by PLOD2 Variant

BackgroundBruck syndrome (BS) is a rare autosomal recessive inherited osteogenesis imperfecta disease characterized by increased bone fragility and joint contracture. The pathogenic gene of type I BS is FKBPl0, whereas that of type II BS is PLOD2. No significant difference has been found in the clin...

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Kaydedildi:
Asıl Yazarlar: Ruo-li Wang, Dan-dan Ruan, Ya-nan Hu, Yu-mian Gan, Xin-fu Lin, Zhu-ting Fang, Li-sheng Liao, Fa-qiang Tang, Wu-bing He, Jie-wei Luo
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Frontiers Media S.A. 2022-05-01
Seri Bilgileri:Frontiers in Pediatrics
Konular:
Bruck syndrome
PLOD2 variant
collagen cross-linking
osteogenesis imperfecta
joint contracture
Online Erişim:https://www.frontiersin.org/articles/10.3389/fped.2022.878172/full
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