Analysis of the clinical and genetic characteristics of a Chinese family with osteogenesis imperfecta type I

BACKGROUND: Osteogenesis imperfecta type I (OI‐I) is a rare genetic disorder characterized by skeletal deformity, bone fragility, blue sclerae, dentinogenesis imperfecta, and hearing loss. The current study aimed to confirm the clinical diagnosis and genetic cause of OI‐I in a four‐generation Chines...

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Detalles Bibliográficos
Autores principales: Niu, Zhijie, Lai, Yongjing, Zhou, Wenwen, Liu, Lingyuan, Tan, Songhua, He, Guangyao, Li, Jingyu, Tang, Fen, Su, Yupei, Xu, Yanglong, Liu, Lei, Xie, Lihong, Fang, Qin, Tang, Anzhou
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9482389/
https://www.ncbi.nlm.nih.gov/pubmed/35855543
http://dx.doi.org/10.1002/mgg3.2019

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