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

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

IntroductionOsteogenesis 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 invo...

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Autors principals: Francesco Paduano, Rita Fischetto, Biagio Moretti, Danila De Vito, Marco Tatullo
Format: Article
Idioma:English
Publicat: Frontiers Media S.A. 2023-10-01
Col·lecció:Frontiers in Endocrinology
Matèries:
osteogenesis imperfecta (OI)
autosomal recessive OI
next generation sequencing (NGS)
collagen type one
molecular diagnosis of OI
Accés en línia:https://www.frontiersin.org/articles/10.3389/fendo.2023.1254695/full

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https://www.frontiersin.org/articles/10.3389/fendo.2023.1254695/full

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