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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Detalles Bibliográficos
Autores principales: Zhou, Peiran, Liu, Yi, Lv, Fang, Nie, Min, Jiang, Yan, Wang, Ou, Xia, Weibo, Xing, Xiaoping, Li, Mei
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2014
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4169569/
https://www.ncbi.nlm.nih.gov/pubmed/25238597
http://dx.doi.org/10.1371/journal.pone.0107594

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4169569/
https://www.ncbi.nlm.nih.gov/pubmed/25238597
http://dx.doi.org/10.1371/journal.pone.0107594

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