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Article

Early-onset of ADCK4 glomerulopathy with renal failure: a case report.

BMC medical genetics - 16 Mar 2017

Lolin Ksenija, Chiodini Benedetta D, Hennaut Elise, Adams Brigitte, Dahan Karin, Ismaili Khalid

Abstract excerpt

BACKGROUND: We present a rare early presentation of a ADCK4-related glomerulopathy. This case is of interest as potentially treatable if genetic results are timely obtained. CASE PRESENTATION: We report the case of a 5-year-old boy who was identified with significant proteinuria by a urinary routine screening program for school children. Physical examination revealed dysplastic ears and abnormal folded pinna....

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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: 28298181
DOI: 10.1186/s12881-017-0392-9
PMCID: PMC5353777

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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