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COL1A1 novel splice variant in osteogenesis imperfecta and splicing variants review: A case report

BACKGROUND: Osteogenesis imperfecta (OI) is a rare heterogeneous genetic disorder commonly autosomal dominant with variants in the COL1A1 and COL1A2 genes. It is characterized by bone fragility and deformity, recurrent fractures, blue sclera, dentinogenesis imperfecta, short stature, and progressive...

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Detalles Bibliográficos
Autores principales:	Dirani, Michella, Cuenca, Victor D., Romero, Vanessa I.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2022
Materias:	Surgery
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9632975/ https://www.ncbi.nlm.nih.gov/pubmed/36338653 http://dx.doi.org/10.3389/fsurg.2022.986372

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