bibliographicCitation |
Travessa AM, Dias P, Rosmaninho-Salgado J, Aza-Carmona M, Moldovan O, Díaz‐González F, Godinho F, Romeu JC, Oliveira-Ramos F, do Céu Barreiros M, Sousa SB, Heath KE, Sousa AB. Characterization of three adults and an adolescent with Osteogenesis Imperfecta type VI and a novel founder SERPINF1 variant. European Journal of Medical Genetics. 2023 Nov;66(11):104867. doi: 10.1016/j.ejmg.2023.104867. |