Cargando…
Exome Sequencing Reveals a Phenotype Modifying Variant in ZNF528 in Primary Osteoporosis With a COL1A2 Deletion
We studied a family with severe primary osteoporosis carrying a heterozygous p.Arg8Phefs*14 deletion in COL1A2, leading to haploinsufficiency. Three affected individuals carried the mutation and presented nearly identical spinal fractures but lacked other typical features of either osteogenesis impe...
Autores principales: | Skarp, Sini, Xia, Ji‐Han, Zhang, Qin, Löija, Marika, Costantini, Alice, Ruddock, Lloyd W, Mäkitie, Outi, Wei, Gong‐Hong, Männikkö, Minna |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
John Wiley & Sons, Inc.
2020
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7757391/ https://www.ncbi.nlm.nih.gov/pubmed/32722848 http://dx.doi.org/10.1002/jbmr.4145 |
Ejemplares similares
-
Rare Copy Number Variants in Array-Based Comparative Genomic Hybridization in Early-Onset Skeletal Fragility
por: Costantini, Alice, et al.
Publicado: (2018) -
TUFT1, a novel candidate gene for metatarsophalangeal osteoarthritis, plays a role in chondrogenesis on a calcium-related pathway
por: Sliz, Eeva, et al.
Publicado: (2017) -
Whole exome sequencing in Finnish families identifies new candidate genes for osteoarthritis
por: Skarp, Sini, et al.
Publicado: (2018) -
New Genetic Variants in CYP2B6 and SLC6A Support the Role of Oxidative Stress in Familial Ménière’s Disease
por: Skarp, Sini, et al.
Publicado: (2022) -
A single genetic locus associated with pediatric fractures: A genome-wide association study on 3,230 patients
por: Parviainen, Roope, et al.
Publicado: (2020)