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A novel PAX2 heterozygous mutation in a family with Papillorenal syndrome: A case report and review of the literature

PURPOSE: Papillorenal syndrome (PAPRS) is a rare inherited disorder often involves abnormalities of eye and kidney. Paired box 2 (PAX2) gene, which is widely expressed in the development of the organs including kidney, ureter, eye, ear, and central nervous system has been considered an underlying ca...

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Detalles Bibliográficos
Autores principales:	Liu, Shixue, Zhang, Peijun, Wu, Jihong, Chang, Qing
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Elsevier 2021
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8102412/ https://www.ncbi.nlm.nih.gov/pubmed/33997468 http://dx.doi.org/10.1016/j.ajoc.2021.101091

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