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

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 <i>COL1A1</i> (17q21.33) or <i>COL1A2</i> (7q21.3) genes, that are involved in α-1 and α-2 chains of type 1 collagen synthesis....

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Bibliographic Details
Main Authors: Letteria Anna Morabito, Anna Elsa Maria Allegri, Anna Paola Capra, Mario Capasso, Valeria Capra, Alberto Garaventa, Mohamad Maghnie, Silvana Briuglia, Malgorzata Gabriela Wasniewska
Format: Article
Language:English
Published: MDPI AG 2022-03-01
Series:Genes
Subjects:
osteogenesis imperfecta
Ehlers–Danlos syndrome
neuroblastoma
short stature
osteogenesis imperfecta/Ehlers–Danlos overlap syndrome
genotype/phenotype correlation
Online Access:https://www.mdpi.com/2073-4425/13/4/581

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https://www.mdpi.com/2073-4425/13/4/581

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