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Article

Genetic stratification reveals COL4A variants and spontaneous remission in Egyptian children with proteinuria in the first 2 years of life.

Acta paediatrica (Oslo, Norway : 1992) - 1 Jun 2023

Elshafey Samar Atef, Thabet Mohamed Alaa Eldin Hassan, Abo Elwafa Reham Abdel Haleem, Schneider Ronen, Shril Shirlee, Buerger Florian, Hildebrandt Friedhelm, Fathy Hanan M

Abstract excerpt

AIM: The earlier the onset of proteinuria, the higher the incidence of genetic forms. Therefore, we aimed to analyse the spectrum of monogenic proteinuria in Egyptian children presenting at age <2 years. METHODS: The results of 27-gene panel or whole-exome sequencing were correlated with phenotype and treatment outcomes in 54 patients from 45 families. RESULTS: Disease-causing variants were identified in 29/45...

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Identifiers

PMID: 36847718
DOI: 10.1111/apa.16732
PMCID: PMC10175230

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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