Two novel compound heterozygous BMP1 mutations in a patient with osteogenesis imperfecta: a case report

BACKGROUND: Osteogenesis imperfecta (OI) is a collagen-related bone dysplasia leading to a susceptibility to fractures. OI can be caused by mutations in several genes including BMP1. It encodes two isoforms, bone morphogenetic protein 1 (BMP1) and mammalian tolloid (mTLD); both have proteolytic acti...

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Detalles Bibliográficos
Publicado en:BMC Med Genet
Main Authors: Sangsin, Apiruk, Kuptanon, Chulaluck, Srichomthong, Chalurmpon, Pongpanich, Monnat, Suphapeetiporn, Kanya, Shotelersuk, Vorasuk
Formato: Artigo
Idioma:Inglês
Publicado: BioMed Central 2017
Assuntos:
Case Report
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC5336636/
https://ncbi.nlm.nih.gov/pubmed/28257626
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-017-0384-9
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