A systematic study and literature review of parental somatic mosaicism of FBN1 pathogenic variants in Marfan syndrome
Paula Fernández-Álvarez, Marta Codina-Sola, Irene Valenzuela, Gisela Teixidó-Turá, Anna Cueto-González, Ida Paramonov, María Antolín, Fermina López-Grondona, Teresa Vendrell, Artur Evangelista, Elena García-Arumí, Eduardo F Tizzano
Journal of Medical Genetics Jun 2022, 59 (6) 605-612; DOI: 10.1136/jmedgenet-2020-107604