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Article

Osteogenesis imperfecta: Novel genetic variants and clinical observations from a clinical exome study of 54 Indian patients.

Annals of human genetics - 1 Jan 2021

Madhuri Vrisha, Selina Agnes, Loganathan Lakshmi, Kumar Ashis, Kumar Vignesh, Raymond Renita, Ramesh Sowmya, Vincy Nimmy, Joel Giftson, James Deeptiman, Kandagaddala Madhavi, B Antonisamy

Abstract excerpt

Osteogenesis imperfecta (OI) is a group of inherited disorders with increased bone fragility and wide genetic heterogeneity. We report the outcome of clinical exome sequencing validated by Sanger sequencing in clinically diagnosed 54 OI patients in Indian population. In 52 patients, we report 20 new variants involving both dominant and recessive OI-specific genes and correlate these with phenotypes. COL1A1 and...

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Exome
Exome Sequencing
Genes, Dominant
Genes, Recessive
Genetic Association Studies

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Osteogenesis Imperfecta

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PMID: 32770541
DOI: 10.1111/ahg.12403

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