Role of rs193922155 in the etiopathogenesis of osteogenesis imperfecta with description of the phenotype: A case report

INTRODUCTION: Osteogenesis imperfecta (OI) is a disorder of the connective tissue that mainly causes the bones to become excessively brittle. The vast majority of OI cases are associated with mutations in the genes encoding the I alpha. PATIENT CONCERNS: A 57-year-old woman office worker was admitte...

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Detalles Bibliográficos
Autores principales: Płomiński, Janusz, Szwabowicz, Marek, Fiedorowicz, Ewa, Grzybowski, Roman, Latacz, Maria, Cieślińska, Anna
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Lippincott Williams & Wilkins 2021
Materias:
4100
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8389867/
https://www.ncbi.nlm.nih.gov/pubmed/34449476
http://dx.doi.org/10.1097/MD.0000000000027021

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8389867/
https://www.ncbi.nlm.nih.gov/pubmed/34449476
http://dx.doi.org/10.1097/MD.0000000000027021

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