Unbiased next generation sequencing analysis confirms the existence of autosomal dominant Alport syndrome in a relevant fraction of cases.
Fallerini C, Dosa L, Tita R, Del Prete D, Feriozzi S, Gai G, Clementi M, La Manna A, Miglietti N, Mancini R, Mandrile G, Ghiggeri GM, Piaggio G, Brancati F, Diano L, Frate E, Pinciaroli AR, Giani M, Castorina P, Bresin E, Giachino D, De Marchi M, Mari F, Bruttini M, Renieri A, Ariani F.
Fallerini C, et al. Among authors: pinciaroli ar.
Clin Genet. 2014 Sep;86(3):252-7. doi: 10.1111/cge.12258. Epub 2013 Oct 17.
Clin Genet. 2014.
PMID: 24033287