A rare heterozygous SP7 variant c.1019A>c (p.Glu340Ala) in a Malaysian family with Osteogenesis Imperfecta Type XII: a case report

A rare heterozygous SP7 variant c.1019A>c (p.Glu340Ala) in a Malaysian family with Osteogenesis Imperfecta Type XII: a case report

Osteogenesis imperfecta (OI) is a rare genetic disorder characterized by increased bone fragility, low bone density, and frequent fractures. Although most cases are associated with mutations in collagen genes (COL1A1 and COL1A2), non-collagen gene mutations, such as those in SP7, have been linked...

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Bibliographic Details
Main Authors: Teh, Hui Wen, Lee, Yee Lin, Musa, Nurul Huda, Thilakavathy, Karuppiah
Format: Conference or Workshop Item
Language:English
Published: Universitas Gadjah Mada 2024
Online Access:http://psasir.upm.edu.my/id/eprint/115332/
http://psasir.upm.edu.my/id/eprint/115332/1/115332.pdf

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