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Detection of a Recurrent TMEM38B Gene Deletion Associated with Recessive Osteogenesis Imperfecta
Osteogenesis imperfecta is a clinically and genetically group of heterogeneous disorders associated with decreased bone density, brittle bones, bone deformity, recurrent fractures, and growth retardation. Osteogenesis imperfecta is commonly associated with mutations of the genes encoding for type I...
Autores principales: | , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Applied Systems srl
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8140756/ https://www.ncbi.nlm.nih.gov/pubmed/34036147 http://dx.doi.org/10.15190/d.2021.3 |