A cryptic balanced translocation involving COL1A2 gene disruption cause a rare type of osteogenesis imperfecta

Author:

Xu Xiao-jie,Lv Fang,Liu Yi,Wang Jian-yi,Song Yu-wen,Asan ,Wang Jia-wei,Song Li-jie,Jiang Yan,Wang Ou,Xia Wei-bo,Xing Xiao-ping,Li Mei

Funder

National Natural Science Foundation of China

National Key Program of Clinical Science

Publisher

Elsevier BV

Subject

Biochemistry, medical,Clinical Biochemistry,Biochemistry,General Medicine

Reference35 articles.

1. Osteogenesis imperfect;Forlino;Lancet,2015

2. Recessively inherited forms of osteogenesis imperfect;Byers;Annu. Rev. Genet.,2012

3. Relationship between genotype and skeletal phenotype in children and adolescents with osteogenesis imperfect;Rauch;J. Bone Miner. Res.,2010

4. Genetic epidemiology, prevalence, and genotype-phenotype correlations in the Swedish population with osteogenesis imperfect;Lindahl;Eur. J. Hum. Genet.,2015

5. Osteogenesis imperfecta type I caused by COL1A1 deletions;Bardai;Calcif. Tissue Int.,2015

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