Induced pluripotent stem cell-based disease modeling identifies ligand-induced decay of megalin as a cause of Donnai-Barrow syndrome
Sign Up to like & getrecommendations! Published in 2020 at "Kidney International"
DOI: 10.1016/j.kint.2020.02.021
Abstract: Donnai-Barrow syndrome (DBS) is an autosomal-recessive disorder characterized by multiple pathologies including malformation of forebrain and eyes, as well as resorption defects of the kidney proximal tubule. The underlying cause of DBS are mutations in… read more here.
Keywords: barrow syndrome; megalin; donnai barrow; induced pluripotent ... See more keywords
The distinct optic disk and peripapillary appearance in Donnai–Barrow syndrome
Sign Up to like & getrecommendations! Published in 2018 at "Ophthalmic Genetics"
DOI: 10.1080/13816810.2018.1430245
Abstract: ABSTRACT Introduction: Biallelic mutations in low-density lipoprotein-related protein 2 (LRP2) cause the multi-system Donnai–Barrow syndrome (facio-oculo-acoustico-renal syndrome). Although Donnai–Barrow syndrome is recognized as a form of vitreo-retinopathy, the ocular phenotype has not been well defined.… read more here.
Keywords: barrow syndrome; appearance; donnai barrow;