. 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
- PMID: 37592754
- DOI: 10.1111/cge.14417
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.