Expanding the genetic and clinical spectrum of osteogenesis imperfecta: identification of novel rare pathogenic variants in type I collagen-encoding genes

INTRODUCTION: Osteogenesis imperfecta (OI) is a clinically and genetically heterogeneous skeletal disorder. The majority of affected cases are attributed to autosomal dominant pathogenic variants (PVs) found in the COL1A1 and COL1A2 genes, which encode type I collagen. However, PVs in other genes in...

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Detalles Bibliográficos
Autores principales: Paduano, Francesco, Fischetto, Rita, Moretti, Biagio, De Vito, Danila, Tatullo, Marco
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Endocrinology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10623311/
https://www.ncbi.nlm.nih.gov/pubmed/37929041
http://dx.doi.org/10.3389/fendo.2023.1254695

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