Osteogenesis imperfecta type VIII: highlighting the need for genetic testing

We report a severe form of osteogenesis imperfecta (OI) type VIII from a lower-middle income country. This is the first case report of this type in Tanzania. The term neonate was delivered normally via spontaneous vaginal delivery and presented at the neonatal unit with features of shortened limb gi...

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Detalles Bibliográficos
Autores principales: Mariki, Haika, Muze, Kandi, Mussa, Fatima, Manji, Karim Premji
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BMJ Publishing Group 2023
Materias:
Case Reports: Rare disease
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10347497/
https://www.ncbi.nlm.nih.gov/pubmed/37437959
http://dx.doi.org/10.1136/bcr-2022-253155

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10347497/
https://www.ncbi.nlm.nih.gov/pubmed/37437959
http://dx.doi.org/10.1136/bcr-2022-253155

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