Slowly progressive autosomal dominant Alport Syndrome due to COL4A3 splicing variant.
Daga S, Loberti L, Rollo G, Adamo L, Colavecchio OL, Brunelli G, Zguro K, Tripodi SA, Guarnieri A, Garosi G, D'Aurizio R, Ariani F, Tita R, Renieri A, Pinto AM.
Daga S, et al. Among authors: colavecchio ol.
Eur J Hum Genet. 2024 Oct 19. doi: 10.1038/s41431-024-01706-8. Online ahead of print.
Eur J Hum Genet. 2024.
PMID: 39424670