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

Cruz-Centeno N, Saenz-Maisonet JF, L?pez-Dones PM, Santiago-Cornier A, Ortiz-Justiniano VN. Mutations in COL1A1 and COL27A1 Associated with a Pectus Excavatum Phenotype in 2 Siblings with Osteogenesis Imperfecta. Am J Case Rep. 2022 May 18; 23:e935526.

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subject areas

Collagen Type I
Fibrillar Collagens
Funnel Chest
Humans
Male
Mutation
Osteogenesis Imperfecta
Phenotype
Siblings

authors with profiles

Alberto Santiago-Cornier

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