Reproductive options for families at risk of Osteogenesis Imperfecta: a review

BACKGROUND: Osteogenesis Imperfecta (OI) is a rare genetic disorder involving bone fragility. OI patients typically suffer from numerous fractures, skeletal deformities, shortness of stature and hearing loss. The disorder is characterised by genetic and clinical heterogeneity. Pathogenic variants in...

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Detalles Bibliográficos
Autores principales: Zhytnik, Lidiia, Simm, Kadri, Salumets, Andres, Peters, Maire, Märtson, Aare, Maasalu, Katre
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7251694/
https://www.ncbi.nlm.nih.gov/pubmed/32460820
http://dx.doi.org/10.1186/s13023-020-01404-w

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