COL1-Related Disorders: Case Report and Review of Overlapping Syndromes

Collagen type I mutations are related to wide phenotypic expressions frequently causing an overlap of clinical manifestations, in particular between Osteogenesis Imperfecta (OI) and Ehlers-Danlos syndrome (EDS). Both disorders present inter- and intra-familial clinical variability and several clinic...

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Detalles Bibliográficos
Autores principales: Gnoli, Maria, Brizola, Evelise, Tremosini, Morena, Pedrini, Elena, Maioli, Margherita, Mosca, Massimiliano, Bassotti, Alessandra, Castronovo, Paola, Giunta, Cecilia, Sangiorgi, Luca
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8138308/
https://www.ncbi.nlm.nih.gov/pubmed/34025714
http://dx.doi.org/10.3389/fgene.2021.640558

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8138308/
https://www.ncbi.nlm.nih.gov/pubmed/34025714
http://dx.doi.org/10.3389/fgene.2021.640558

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