Disease expression in juvenile polyposis syndrome: a retrospective survey on a cohort of 221 European patients and comparison with a literature-derived cohort of 473 SMAD4/BMPR1A pathogenic variant carriers

Autor: Blatter, Robert, Tschupp, Benjamin, Aretz, Stefan, Bernstein, Inge, Colas, Chrystelle, Evans, D. Gareth, Genuardi, Maurizio, Hes, Frederik J., Hüneburg, Robert, Järvinen, Heikki, Lalloo, Fiona, Moeslein, Gabriela, Renkonen-Sinisalo, Laura, Resta, Nicoletta, Spier, Isabel, Varvara, Dora, Vasen, Hans, Latchford, Andrew R., Heinimann, Karl
Zdroj: In Genetics in Medicine September 2020 22(9):1524-1532
Databáze: ScienceDirect
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