Monoallelic and Biallelic CREB3L1 Variant Causes Mild and Severe Osteogenesis Imperfecta, Respectively

PURPOSE: Osteogenesis imperfecta (OI) is a heritable skeletal dysplasia. Dominant pathogenic variants in COL1A1 and COL1A2 explain the majority of OI cases. At least fifteen additional genes have been identified, but still do not account for all OI phenotypes that present. We sought the genetic caus...

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Detalles Bibliográficos
Autores principales: Keller, Rachel B, Tran, Thao T, Pyott, Shawna M, Pepin, Melanie G, Savarirayan, Ravi, McGillivray, George, Nickerson, Deborah A, Bamshad, Michael J, Byers, Peter H
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2017
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5816725/
https://www.ncbi.nlm.nih.gov/pubmed/28817112
http://dx.doi.org/10.1038/gim.2017.115

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