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Osteogenesis Imperfecta/Ehlers–Danlos Overlap Syndrome and Neuroblastoma—Case Report and Review of Literature

Osteogenesis imperfecta/Ehlers–Danlos (OI/EDS) overlap syndrome is a recently described disorder of connective tissue, characterized by mutation of COL1A1 (17q21.33) or COL1A2 (7q21.3) genes, that are involved in α-1 and α-2 chains of type 1 collagen synthesis. The clinical spectrum of this new clin...

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Detalles Bibliográficos
Autores principales: Morabito, Letteria Anna, Allegri, Anna Elsa Maria, Capra, Anna Paola, Capasso, Mario, Capra, Valeria, Garaventa, Alberto, Maghnie, Mohamad, Briuglia, Silvana, Wasniewska, Malgorzata Gabriela
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9024599/
https://www.ncbi.nlm.nih.gov/pubmed/35456387
http://dx.doi.org/10.3390/genes13040581