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Novel Mutations in FKBP10 and PLOD2 Cause Rare Bruck Syndrome in Chinese Patients

Bruck syndrome (BS) is an extremely rare form of osteogenesis imperfecta characterized by congenital joint contracture, multiple fractures and short stature. We described the phenotypes of BS in two Chinese patients for the first time. The novel compound heterozygous mutations c.764_772dupACGTCCTCC...

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Detaylı Bibliyografya
Asıl Yazarlar: Zhou, Peiran, Liu, Yi, Lv, Fang, Nie, Min, Jiang, Yan, Wang, Ou, Xia, Weibo, Xing, Xiaoping, Li, Mei
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Public Library of Science 2014
Konular:
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC4169569/
https://ncbi.nlm.nih.gov/pubmed/25238597
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0107594
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