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Genetic Analysis and Functional Study of a Pedigree With Bruck Syndrome Caused by PLOD2 Variant
BACKGROUND: Bruck syndrome (BS) is a rare autosomal recessive inherited osteogenesis imperfecta disease characterized by increased bone fragility and joint contracture. The pathogenic gene of type I BS is FKBPl0, whereas that of type II BS is PLOD2. No significant difference has been found in the cl...
| Autores principales: | , , , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Frontiers Media S.A.
2022
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9120662/ https://www.ncbi.nlm.nih.gov/pubmed/35601416 http://dx.doi.org/10.3389/fped.2022.878172 |