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MON-493 A Unique Case of Severe Osteogenesis Imperfecta Due to a Novel Heterozygous Mutation in COL1A1 Gene with Overlapping Hypophosphatasia Phenotype
Background: Osteogenesis imperfecta (OI) is a rare heterogeneous bone fragility disease due to collagen defect most often caused by autosomal dominant (AD) COL1A1 or COL1A2 gene mutations. Severe forms of Hypophosphatasia (HPP) may phenotypically resemble OI, is a distinct disorder of hypomineraliza...
| Autores principales: | , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Endocrine Society
2019
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6550687/ http://dx.doi.org/10.1210/js.2019-MON-493 |