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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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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/115332/1/115332.pdf
http://psasir.upm.edu.my/id/eprint/115332/
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spelling my.upm.eprints.1153322025-03-03T06:17:47Z http://psasir.upm.edu.my/id/eprint/115332/ A rare heterozygous SP7 variant c.1019A>c (p.Glu340Ala) in a Malaysian family with Osteogenesis Imperfecta Type XII: a case report Teh, Hui Wen Lee, Yee Lin Musa, Nurul Huda Thilakavathy, Karuppiah 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 to OI type XII. Here, we report on a Malaysian family affected by a rare SP7 variant. Universitas Gadjah Mada 2024 Conference or Workshop Item PeerReviewed text en http://psasir.upm.edu.my/id/eprint/115332/1/115332.pdf Teh, Hui Wen and Lee, Yee Lin and Musa, Nurul Huda and Thilakavathy, Karuppiah (2024) A rare heterozygous SP7 variant c.1019A>c (p.Glu340Ala) in a Malaysian family with Osteogenesis Imperfecta Type XII: a case report. In: 5th International Symposium on Congenital Anomaly and Developmental Biology (ISCADB) 2024, 15-16 Nov. 2024 (pp. 12-13).
institution Universiti Putra Malaysia
building UPM Library
collection Institutional Repository
continent Asia
country Malaysia
content_provider Universiti Putra Malaysia
content_source UPM Institutional Repository
url_provider http://psasir.upm.edu.my/
language English
description 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 to OI type XII. Here, we report on a Malaysian family affected by a rare SP7 variant.
format Conference or Workshop Item
author Teh, Hui Wen
Lee, Yee Lin
Musa, Nurul Huda
Thilakavathy, Karuppiah
spellingShingle Teh, Hui Wen
Lee, Yee Lin
Musa, Nurul Huda
Thilakavathy, Karuppiah
A rare heterozygous SP7 variant c.1019A>c (p.Glu340Ala) in a Malaysian family with Osteogenesis Imperfecta Type XII: a case report
author_facet Teh, Hui Wen
Lee, Yee Lin
Musa, Nurul Huda
Thilakavathy, Karuppiah
author_sort Teh, Hui Wen
title A rare heterozygous SP7 variant c.1019A>c (p.Glu340Ala) in a Malaysian family with Osteogenesis Imperfecta Type XII: a case report
title_short A rare heterozygous SP7 variant c.1019A>c (p.Glu340Ala) in a Malaysian family with Osteogenesis Imperfecta Type XII: a case report
title_full A rare heterozygous SP7 variant c.1019A>c (p.Glu340Ala) in a Malaysian family with Osteogenesis Imperfecta Type XII: a case report
title_fullStr A rare heterozygous SP7 variant c.1019A>c (p.Glu340Ala) in a Malaysian family with Osteogenesis Imperfecta Type XII: a case report
title_full_unstemmed A rare heterozygous SP7 variant c.1019A>c (p.Glu340Ala) in a Malaysian family with Osteogenesis Imperfecta Type XII: a case report
title_sort rare heterozygous sp7 variant c.1019a>c (p.glu340ala) in a malaysian family with osteogenesis imperfecta type xii: a case report
publisher Universitas Gadjah Mada
publishDate 2024
url http://psasir.upm.edu.my/id/eprint/115332/1/115332.pdf
http://psasir.upm.edu.my/id/eprint/115332/
_version_ 1825810733359693824
score 13.244413

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