18 May 2022>: Articles
Mutations in and Associated with a Pectus Excavatum Phenotype in 2 Siblings with Osteogenesis Imperfecta
Congenital defects / diseases
Nelimar Cruz-Centeno A* , Jean F. Saenz-Maisonet C , Paola M. López-Dones D , Alberto Santiago-Cornier A , Victor N. Ortiz-Justiniano ADOI: 10.12659/AJCR.935526
Am J Case Rep 2022; 23:e935526
Table 2. Invitae skeletal disorders panel results.
Gene | Genetic variant | Zygosity |
---|---|---|
COL1A1 | Gain (exons 2–51) | Copy number=3 |
COL27A1 | c.2089G>C (p.Gly697Arg) | Heterozygous |