Genotype-phenotype correlations and functional characterization of novel PAX2 variants in a 10-patient pediatric cohort.

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Title: Genotype-phenotype correlations and functional characterization of novel PAX2 variants in a 10-patient pediatric cohort.
Authors: Fu M; Department of Pediatric Rheumatology and Nephrology, Sun Yat-sen University First Affiliated Hospital, Guangzhou, China., Zhuang H; Department of Pediatric Rheumatology and Nephrology, Sun Yat-sen University First Affiliated Hospital, Guangzhou, China., Wen Y; Department of Pediatric Rheumatology and Nephrology, Sun Yat-sen University First Affiliated Hospital, Guangzhou, China., Chen L; Department of Pediatric Rheumatology and Nephrology, Sun Yat-sen University First Affiliated Hospital, Guangzhou, China., Jiang M; Department of Pediatric Rheumatology and Nephrology, Sun Yat-sen University First Affiliated Hospital, Guangzhou, China., Xu Y; Department of Pediatric Rheumatology and Nephrology, Sun Yat-sen University First Affiliated Hospital, Guangzhou, China., Tang Y; Department of Pediatrics, Sun Yat-sen University First Affiliated Hospital, Guangzhou, China., Rong L; Department of Pediatric Rheumatology and Nephrology, Sun Yat-sen University First Affiliated Hospital, Guangzhou, China., Jiang X; Department of Pediatric Rheumatology and Nephrology, Sun Yat-sen University First Affiliated Hospital, Guangzhou, China.
Source: Renal failure [Ren Fail] 2025 Dec; Vol. 47 (1), pp. 2552911. Date of Electronic Publication: 2025 Sep 15.
Publication Type: Journal Article
Journal Info: Publisher: Informa Healthcare Country of Publication: England NLM ID: 8701128 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1525-6049 (Electronic) Linking ISSN: 0886022X NLM ISO Abbreviation: Ren Fail Subsets: MEDLINE
Database: MEDLINE Ultimate
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ISSN:1525-6049
DOI:10.1080/0886022X.2025.2552911