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American Journal of Medical Genetics. Part A|August 29, 2020
Spondyloepiphyseal dysplasia type Stanescu: Expanding the clinical and molecular spectrum of a very rare type II collagenopathyAndré M Travessa, Francisca Díaz-González, Teresa Mirco, et al.Molecular Syndromology|October 9, 2025
CRTAP-Related Osteogenesis Imperfecta: Clinical Variability and a Potential Founder Variant in CRTAPAndré M Travessa, José Carlos Romeu, Teresa Mirco, et al.Pageof 1