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A novel mutation in COL1A1 causing osteogenesis imperfecta/hearing loss

OBJECTIVES: To screen the COL1A1 and COL1A2 gene mutation sites in a family with type I osteogenesis imperfecta (OI)/hearing loss and analyze the characteristics and recovery of hearing loss in patients with osteogenesis imperfecta. METHODS: The basic clinical data of OI proband and her parents were...

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Detalles Bibliográficos
Autores principales:	Pan, Ti-Ti, Han, Lin, Zheng, Hong-Wei, Xing, Zhi-Min, Yu, Li-Sheng, Liu, Yuan-Jun
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Elsevier 2023
Materias:	Original Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10495631/ https://www.ncbi.nlm.nih.gov/pubmed/37678008 http://dx.doi.org/10.1016/j.bjorl.2023.101312

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