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A novel de novo COL1A1 mutation in a Thai boy with osteogenesis imperfecta born to consanguineous parents
Osteogenesis imperfecta (OI) is genetically heterogeneous. Mutations in COL1A1 and COL1A2 are responsible for at least 90% of the cases, which are transmitted in an autosomal dominant manner or are de novo events. We identified a Thai boy with OI whose parents were first cousins. Because the proband...
| Autores principales: | , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Sociedade Brasileira de Genética
2017
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5738616/ https://www.ncbi.nlm.nih.gov/pubmed/28956891 http://dx.doi.org/10.1590/1678-4685-GMB-2016-0033 |