Article
Consensus statement on standards and guidelines for the molecular diagnostics of Alport syndrome: refining the ACMG criteria.
European journal of human genetics : EJHG - 1 Aug 2021
Savige Judy, Storey Helen, Watson Elizabeth, Hertz Jens Michael, Deltas Constantinos, Renieri Alessandra, Mari Francesca, Hilbert Pascale, Plevova Pavlina, Byers Peter, Cerkauskaite Agne, Gregory Martin, Cerkauskiene Rimante, Ljubanovic Danica Galesic, Becherucci Francesca, Errichiello Carmela, Massella Laura, Aiello Valeria, Lennon Rachel, Hopkinson Louise, Koziell Ania, Lungu Adrian, Rothe Hansjorg Martin, Hoefele Julia, Zacchia Miriam, Martic Tamara Nikuseva, Gupta Asheeta, van Eerde Albertien, Gear Susie, Landini Samuela, Palazzo Viviana, Al-Rabadi Laith, Claes Kathleen, Corveleyn Anniek, Van Hoof Evelien, van Geel Micheel, Williams Maggie, Ashton Emma, Belge Hendica, Ars Elisabeth, Bierzynska Agnieszka, Gangemi Concetta, Lipska-Ziętkiewicz Beata S
Abstract excerpt
The recent Chandos House meeting of the Alport Variant Collaborative extended the indications for screening for pathogenic variants in the COL4A5, COL4A3 and COL4A4 genes beyond the classical Alport phenotype (haematuria, renal failure; family history of haematuria or renal failure) to include persistent proteinuria, steroid-resistant nephrotic syndrome, focal and segmental glomerulosclerosis (FSGS), familial IgA...
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