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Osteogenesis imperfecta with partial trisomy 15

Osteogenesis imperfecta (OI) is the most common genetic cause of osteoporosis, which presents as multiple fractures of bone. Mutations in the loci COL1A1 on band 17q21 and COL1A2 on band 7q22 have been reported as the cause in most cases of OI, but partial trisomy 15 has not been reported previously...

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Main Authors: Prasad, Rajniti, Basu, Biswanath, Singh, Utpal Kant, Mishra, Om Prakash
Format: Artigo
Jezik:Inglês
Izdano: BMJ Publishing Group 2009
Teme:
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC3027863/
https://ncbi.nlm.nih.gov/pubmed/21686500
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/bcr.09.2008.1020
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