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...

Descripción completa

Detalles Bibliográficos
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