Novel mutations in FKBP10 and PLOD2 cause rare Bruck syndrome in Chinese patients.

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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Bibliographic Details
Main Authors: Peiran Zhou, Yi Liu, Fang Lv, Min Nie, Yan Jiang, Ou Wang, Weibo Xia, Xiaoping Xing, Mei Li
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2014-01-01
Series:PLoS ONE
Online Access:http://europepmc.org/articles/PMC4169569?pdf=render

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