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Three Patient Kindred with a Novel Phenotype of Osteogenesis Imperfecta due to a COL1A1 Variant

Osteogenesis imperfecta (OI) is characterized by fractures and progressive bone deformities. Fracture rates peak during the toddler and adolescent years and decline during adulthood but do not stop entirely. We describe a kindred, the affected members of which were the mother and two sons, who prese...

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Detalhes bibliográficos
Publicado no:J Clin Res Pediatr Endocrinol
Main Authors: Gupta, Nidhi, Gregory, Seth W., Deyle, David R., Tebben, Peter J.
Formato: Artigo
Idioma:Inglês
Publicado em: Galenos Publishing 2021
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC8186326/
https://ncbi.nlm.nih.gov/pubmed/32519829
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.4274/jcrpe.galenos.2020.2020.0012
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