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

Case series Patients: Male, 10-year-old • Female, 12-year-old Final Diagnosis: Osteogenesis imperfecta • pectus excavatum Symptoms: Bone fractures • chest wall deformity • mitral regurgitation • shortness of breath Medication: — Clinical Procedure: Nuss procedure Specialty: Genetics OBJECTIVE: Conge...

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Detalles Bibliográficos
Autores principales: Cruz-Centeno, Nelimar, Saenz-Maisonet, Jean F., López-Dones, Paola M., Santiago-Cornier, Alberto, Ortiz-Justiniano, Victor N.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: International Scientific Literature, Inc. 2022
Materias:
Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9125528/
https://www.ncbi.nlm.nih.gov/pubmed/35581901
http://dx.doi.org/10.12659/AJCR.935526

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9125528/
https://www.ncbi.nlm.nih.gov/pubmed/35581901
http://dx.doi.org/10.12659/AJCR.935526

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