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Research: From pollakiuria to Donnai-Barrow syndrome diagnosis in pediatric age

Updated on November 13, 2023November 13, 20231 min read

Clin Genet

. 2023 Dec;104(6):711-712.

doi: 10.1111/cge.14417. Epub 2023 Aug 17. https://pubmed.ncbi.nlm.nih.gov/37592754/

From pollakiuria to Donnai-Barrow syndrome diagnosis in pediatric age

Michela M Gritti¹, Luca Pecoraro^1 2, Monica Ceol³, Angelo Pietrobelli¹, Giorgio Piacentini¹, Franca Anglani³, Milena Brugnara¹

Affiliations expand

PMID: 37592754
DOI: 10.1111/cge.14417

Abstract

We report the case of two siblings with incomplete Donnai-Barrow syndrome (DBS) phenotype carrying three LRP2 variants never associated before with DBS phenotype.

Keywords: Donnai-Barrow syndrome; LRP2 gene variants; low-molecular-weight-proteinuria; tubular proteinuria.

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