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

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

Abstract 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 var...

Full description

Bibliographic Details
Main Authors: Lidiia Zhytnik, Kadri Simm, Andres Salumets, Maire Peters, Aare Märtson, Katre Maasalu
Format: Article
Language:English
Published: BMC 2020-05-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Reproduction
Osteogenesis Imperfecta
Family planning
Bone fragility
Prenatal diagnosis
Preimplantation genetic testing
Online Access:http://link.springer.com/article/10.1186/s13023-020-01404-w

Internet

http://link.springer.com/article/10.1186/s13023-020-01404-w

Similar Items