Cargando…
De novo and inherited pathogenic variants in collagen‐related osteogenesis imperfecta
BACKGROUND: Osteogenesis imperfecta (OI) is a rare genetic bone fragility disorder. In the current study, differences between the genotypes and phenotypes of de novo and inherited collagen‐related OI were investigated. METHODS: A comparative analysis was performed of the genotypes and phenotypes of...
Autores principales: | Zhytnik, Lidiia, Maasalu, Katre, Duy, Binh Ho, Pashenko, Andrey, Khmyzov, Sergey, Reimann, Ene, Prans, Ele, Kõks, Sulev, Märtson, Aare |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
John Wiley and Sons Inc.
2019
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6418448/ https://www.ncbi.nlm.nih.gov/pubmed/30675999 http://dx.doi.org/10.1002/mgg3.559 |
Ejemplares similares
-
IFITM5 pathogenic variant causes osteogenesis imperfecta V with various phenotype severity in Ukrainian and Vietnamese patients
por: Zhytnik, Lidiia, et al.
Publicado: (2019) -
COL1A1/2 Pathogenic Variants and Phenotype Characteristics in Ukrainian Osteogenesis Imperfecta Patients
por: Zhytnik, Lidiia, et al.
Publicado: (2019) -
Mutational analysis of COL1A1 and COL1A2 genes among Estonian osteogenesis imperfecta patients
por: Zhytnik, Lidiia, et al.
Publicado: (2017) -
Mutation analysis of the COL1A1 and COL1A2 genes in Vietnamese patients with osteogenesis imperfecta
por: Ho Duy, Binh, et al.
Publicado: (2016) -
Inter‐ and Intrafamilial Phenotypic Variability in Individuals with Collagen‐Related Osteogenesis Imperfecta
por: Zhytnik, Lidiia, et al.
Publicado: (2020)