Osteogenesis Imperfecta Type VI with Severe Bony Deformities Caused by Novel Compound Heterozygous Mutations in SERPINF1

Osteogenesis imperfecta (OI) comprises a heterogeneous group of disorders characterized by bone fragility, frequent fractures, and low bone mass. Dominantly inherited COL1A1 or COL1A2 mutations appear to be causative in the majority of OI types, but rare recessively inherited genes have also been re...

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Detalhes bibliográficos
Main Authors: Cho, Sung Yoon, Ki, Chang-Seok, Sohn, Young Bae, Kim, Su Jin, Maeng, Se Hyun, Jin, Dong-Kyu
Formato: Artigo
Idioma:Inglês
Publicado em: The Korean Academy of Medical Sciences 2013
Assuntos:
Case Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3708087/
https://ncbi.nlm.nih.gov/pubmed/23853499
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3346/jkms.2013.28.7.1107
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