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Article

Mutations in COL1A1 and COL27A1 Associated with a Pectus Excavatum Phenotype in 2 Siblings with Osteogenesis Imperfecta.

The American journal of case reports - 18 May 2022

Cruz-Centeno Nelimar, Saenz-Maisonet Jean F, López-Dones Paola M, Santiago-Cornier Alberto, Ortiz-Justiniano Victor N

Abstract excerpt

BACKGROUND Osteogenesis imperfecta is a skeletal disease with a range of phenotypes, depending on the genetic mutation. Individuals with osteogenesis imperfecta type I often have mutations in COL1A genes. This disease can be associated with chest wall deformities such as pectus excavatum, but the number of patients with this presentation is limited, and genetic variants associated with this phenotype have not...

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Identifiers

PMID: 35581901
DOI: 10.12659/AJCR.935526
PMCID: PMC9125528

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Mutations in COL1A1 and COL27A1 Associated with a Pectus Excavatum Phenotype in 2 Siblings with Osteogenesis Imperfecta.PMID 35581901Read ↗

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