Correction: Slowly progressive autosomal dominant Alport Syndrome due to COL4A3 splicing variant
Sergio Daga, Lorenzo Loberti, Giulia Rollo, Loredaria Adamo, Olga Lorenza Colavecchio, Giulia Brunelli, Kristina Zguro, Sergio Antonio Tripodi, Andrea Guarnieri, Guido Garosi, Romina D’Aurizio, Francesca Ariani, Rossella Tita, Alessandra Renieri, Anna Maria Pinto
Abstract
Genes, proteins, chemicals, diseases, species, mutations and cell lines named across the full text — each resolved to its canonical identifier and authoritative record.
Peer Reviews
No public reviews on file for this paper yet. If you reviewed it on a platform where reviews are public (OpenReview, ICLR, NeurIPS, ICML), you can paste yours below so the community can read it here.
Videos
No videos yet. Explain this paper in a talk, walkthrough, or lecture? Add one.
Taxonomy
TopicsCell Adhesion Molecules Research · Connective tissue disorders research · Sarcoma Diagnosis and Treatment
Correction to: European Journal of Human Genetics 10.1038/s41431-024-01706-8, published online 19 October 2024
Table 1 was missing from this article; the figure should have appeared as shown below.Table 1. Patient’s clinical and molecular characteristics.Family IDPosition in the pedigreeSexAge (years)Mutated GeneMutated nucleotideMutated aminoacidCADDMicroscopic hematuriaMacroscopic hematuriaProteinuriaCreatinineeGFRHearing impairmentVisual impairmentNephrotic SyndromeKidney FailureKidney TransplantationMedications5813/21III:2F64COL4A3c.765G>A(p.(Thr255Thr))25.2YesNoYes0,90 mg/dL68,5 mL/minNoNoNoNoNoNo472/23III:3F62YesNoYes1,03 mg/dL57,4 mL/minNoNoNoNoNoRamipril 10mg, Dapaglifozin 10mg6927/23III:4M59YesNoYes (0,5mg/dL)0,88 mg/dL94 mL/minYesNoNoNoNoRamipril 2,5mg6535/23IV:2M31YesNoNoNaNaNoNoNoNoNoNo6537/23IV:3F36NaNoNoNaNaNoNoNoNoNoNo6539/23IV:4F32YesNoNo0,64 mg/dL118,1 mL/minNoNoNoNoNoNo6533/23IV:1M37////NoNoNo1,04 mg/dL91,3 mL/minNoNoNoNoNoNo6929/23IV:5M27NoNoNo0,81 mg/dL121,8 mL/minNoNoNoNoNoNoStages of chronic kidney diseases eGFR reference value in accordance with Levey AS et al.1 90+ Normal eGFR, normal renal function or minimally impaired.2 60–89 eGFR slightly lower than normal.3 30–59 eGFR lower than normal.4 15–29 eGFR much lower than normal.5 <15 Kidney failure.
The original article has been corrected.