Perthes Disease in a Child With Osteogenesis Imperfecta From a Rare Genetic Variant: A Case Report

Background: Although certain genetic components have been reported as contributing factors for Perthes disease, its etiology remains unclear. We present a rare case of Perthes disease in a child with osteogenesis imperfecta (OI) caused by a mutation in the COL1A1 gene (NM_000088):exon25:c.1726C>T...

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Detalles Bibliográficos
Autores principales: Hong, Pan, Zhao, Xiaolong, Liu, Ruikang, Rai, Saroj, Song, Yingying, Xu, Ruijing, Li, Jin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9304686/
https://www.ncbi.nlm.nih.gov/pubmed/35873455
http://dx.doi.org/10.3389/fgene.2022.920950

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9304686/
https://www.ncbi.nlm.nih.gov/pubmed/35873455
http://dx.doi.org/10.3389/fgene.2022.920950

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