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 Gritti ¹, Luca Pecoraro ^1 2, Monica Ceol ³, Angelo Pietrobelli ¹, Giorgio Piacentini ¹, Franca Anglani ³, Milena Brugnara ¹

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.

© 2023 The Authors. Clinical Genetics published by John Wiley & Sons Ltd.