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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Detalles Bibliográficos
Autores principales: Cho, Sung Yoon, Ki, Chang-Seok, Sohn, Young Bae, Kim, Su Jin, Maeng, Se Hyun, Jin, Dong-Kyu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Korean Academy of Medical Sciences 2013
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3708087/
https://www.ncbi.nlm.nih.gov/pubmed/23853499
http://dx.doi.org/10.3346/jkms.2013.28.7.1107

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3708087/
https://www.ncbi.nlm.nih.gov/pubmed/23853499
http://dx.doi.org/10.3346/jkms.2013.28.7.1107

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