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Article

Genotype-phenotype correlation among Malaysian patients with osteogenesis imperfecta.

Clinica chimica acta; international journal of clinical chemistry - 1 Sept 2018

Mohd Nawawi Nadiah, Selveindran Nalini M, Rasat Rahmah, Chow Yock Ping, Abdul Latiff Zarina, Syed Zakaria Syed Zulkifli, Jamal Rahman, Abdul Murad Nor Azian, Abd Aziz Bilkis Banu

Abstract excerpt

BACKGROUND: Osteogenesis imperfecta (OI) is a rare genetic bone disease characterized by bone fragility and low bone mass. OI was mainly caused by genetic mutations in collagen genes, COL1A1 and COL1A2. Nevertheless, new genes have been identified to be causally linked to OI. The clinical features between each OI groups share great similarities and it is sometimes difficult for clinicians to diagnose the disease...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 29807018
DOI: 10.1016/j.cca.2018.05.048

Genes

BMP1
IFITM5
SERPINF1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

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