Ontology highlight
ABSTRACT:
SUBMITTER: Zhou P
PROVIDER: S-EPMC4169569 | biostudies-literature | 2014
REPOSITORIES: biostudies-literature
Zhou Peiran P Liu Yi Y Lv Fang F Nie Min M Jiang Yan Y Wang Ou O Xia Weibo W Xing Xiaoping X Li Mei M
PloS one 20140919 9
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 (p.255_257dupHisValLeu) in exon 5 and c.1405G>T (p.Gly469X) in exon 9 of FKBP10 were identified in one proband. The novel compound heterozygous mutations c.1624delT (p.Tyr542Thrfs*18) in exon 14 and c ...[more]