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Article

Genotype and phenotype analysis and transplantation strategy in children with kidney failure caused by NPHP.

Pediatric nephrology (Berlin, Germany) - 1 May 2023

Li Jianyi, Su Xiaojun, Zhang Huanxi, Wu Wenrui, Li Jianming, Chen Yanxu, Li Jun, Fu Qian, Wu Chenglin, Zhong Xuhui, Wang Changxi, Liu Longshan

Abstract excerpt

BACKGROUND: Nephronophthisis-related ciliopathies (NPHP-RC) have strong genotype and phenotype heterogeneity, and the transplantation strategy of Boichis syndrome is still controversial. Our purpose was to examine associations of genotype and phenotype in children with NPHP-RC and analyze the transplantation strategies of different phenotypes. METHODS: The records of children with NPHP treated at our center from...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 36227438
DOI: 10.1007/s00467-022-05763-3
PMCID: PMC10060285

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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