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Proteinuria in Two Sisters with Beaulieu-Boycott-Innes Syndrome, A Case Report.

Iranian journal of kidney diseases - 1 Jul 2020

Hassanvand Amouzadeh Masoud, Akhavan Sepahi Mohsen, Abasi Ezatollah

Abstract excerpt

We report two sisters (13- and 4-year-old) presenting with moderate intellectual disability, dysmorphic facial features, intermittent hematuria, proteinuria, and dental caries. Their parents and other family members were not affected. Whole-exome sequencing was performed to screen the underlying genetic cause. These patients have been analyzed using Next-Generation Sequencing (NGS) method and homozygote variant...

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PMID: 32655027

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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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