OR13-5 The Molecular Landscape of Osteogenesis Imperfecta in a Brazilian Tertiary Service Cohort

Osteogenesis imperfecta (OI) is clinically and genetically heterogeneous. Defects in collagen type 1 are reportedly the main cause of OI (85-90%), but most available data has arisen from developed countries. Massively parallel sequencing (MPS) technologies now allow for systematic and comprehensive...

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Vydáno v:J Endocr Soc
Hlavní autoři: Simões, Vivian Roberta, Fernandes, Adriana, França, Monica, Rocha-Braz, Manuela, Martin, Regina, Mendonca, Berenice, Ferraz-de-Souza, Bruno
Médium: Artigo
Jazyk:Inglês
Vydáno: Endocrine Society 2019
Témata:
Bone and Mineral Metabolism
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC6554814/
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/js.2019-OR13-5
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