Novel Mutations Within Collagen Alpha1(I) and Alpha2(I) Ligand-Binding Sites, Broadening the Spectrum of Osteogenesis Imperfecta – Current Insights Into Collagen Type I Lethal Regions

Novel Mutations Within Collagen Alpha1(I) and Alpha2(I) Ligand-Binding Sites, Broadening the Spectrum of Osteogenesis Imperfecta – Current Insights Into Collagen Type I Lethal Regions

Osteogenesis imperfecta (OI) is a rare genetic disorder demonstrating considerable phenotypic and genetic heterogeneity. The extensively studied genotype–phenotype correlation is a crucial issue for a reliable counseling, as the disease is recognized at increasingly earlier stages of life, including...

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Bibliographic Details
Main Authors: Kinga Sałacińska, Iwona Pinkier, Lena Rutkowska, Danuta Chlebna-Sokół, Elżbieta Jakubowska-Pietkiewicz, Izabela Michałus, Łukasz Kępczyński, Dominik Salachna, Aleksander Jamsheer, Ewelina Bukowska-Olech, Ilona Jaszczuk, Lucjusz Jakubowski, Agnieszka Gach
Format: Article
Language:English
Published: Frontiers Media S.A. 2021-07-01
Series:Frontiers in Genetics
Subjects:
osteogenesis imperfecta
COL1A1
COL1A2
genotype–phenotype correlation
next generation sequencing
fractures
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2021.692978/full

Internet

https://www.frontiersin.org/articles/10.3389/fgene.2021.692978/full

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