Article
Multiorgan manifestations of COL4A1 and COL4A2 variants and proposal for a clinical management protocol.
American journal of medical genetics. Part C, Seminars in medical genetics - 1 Dec 2024
Gasparini Simone, Balestrini Simona, Saccaro Luigi Francesco, Bacci Giacomo, Panichella Giorgia, Montomoli Martino, Cantalupo Gaetano, Bigoni Stefania, Mancano Giorgia, Pellacani Simona, Leuzzi Vincenzo, Volpi Nila, Mari Francesco, Melani Federico, Cavallin Mara, Pisano Tiziana, Porcedda Giulio, Vaglio Augusto, Mei Davide, Barba Carmen, Parrini Elena, Guerrini Renzo
Abstract excerpt
COL4A1/2 variants are associated with highly variable multiorgan manifestations. Depicting the whole clinical spectrum of COL4A1/2-related manifestations is challenging, and there is no consensus on management and preventative strategies. Based on a systematic review of current evidence on COL4A1/2-related disease, we developed a clinical questionnaire that we administered to 43 individuals from 23 distinct...
Topics
Join the communities discussing this publication.