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...

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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:
Original Articles
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

Internet

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

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