Clinical phenotype characteristics and genetic analysis in children with nephronophthisis and related syndromes caused by different gene mutations

OBJECTIVESTo improve the understanding of the clinical phenotypes and genetic characteristics of nephronophthisis (NPHP) and related syndromes in children. METHODSA retrospective analysis was performed on the medical data of eight children with NPHP and related syndromes who were diagnosed and treat...

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Veröffentlicht in:	Zhongguo dang dai er ke za zhi 2023-08, Vol.25 (8), p.831-836
Hauptverfasser:	Zhao, Xue, Jiang, Li-Jun, Rong, Zan-Hua, Dou, Zhi-Yan, Su, Qing-Xiao, Liang, Yu-Heng, Qi, Xing-Jie
Format:	Artikel
Sprache:	chi
Online-Zugang:	Volltext
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