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Article

Exome Sequencing in a Large Cohort with Ciliopathy-Related Kidney Disease.

Clinical journal of the American Society of Nephrology : CJASN - 1 Mar 2026

Petzold Friederike, Jeanpierre Cécile, Chen Xiaoyi, Morinière Vincent, Benmerah Alexandre, Dorval Guillaume, Saei Hassan, Heidet Laurence, Antignac Corinne, Saunier Sophie

Abstract excerpt

KEY POINTS: Exome sequencing solved 26% of nephronophthisis cases, identifying nephropathy and extrarenal disease genes beyond classic ciliopathy panels. Exome sequencing uncovered GN and tubular nephropathy genes misdiagnosed as ciliopathy-associated nephropathy, underscoring diagnostic overlap in kidney diseases. Patients with nonciliary genetic variants may present with ciliopathy-like extrarenal symptoms,...

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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: 41343253
DOI: 10.2215/CJN.0000000905
PMCID: PMC12959737

Genes

SSBP1
AGXT
APTX
COL4A3
COQ8B
CRX
DHX38
IQCE
LAMB2
MUC1
RPGR
TUBB3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

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