title: The Case ∣ Familial occurrence of retinitis pigmentosa, deafness, and nephropathy.
authors.affiliation: Second Division of Nephrology, Spedali Civili di Brescia, Montichiari Hospital, Montichiari, Italy.
authors.forename: Claudia
authors.initials: C
authors.lastname: Izzi
authors.affiliation: Department of Medical and Surgical Sciences, University of Padua, Padua, Italy.
authors.forename: Pietro
authors.initials: P
authors.lastname: Maffei
authors.affiliation: Department of Medical and Surgical Sciences, University of Padua, Padua, Italy.
authors.forename: Gabriella
authors.initials: G
authors.lastname: Milan
authors.affiliation: Department of Pathology, Spedali Civili di Brescia, Brescia, Italy.
authors.forename: Regina
authors.initials: R
authors.lastname: Tardanico
authors.affiliation: Department of Nephrology, University of Brescia, Brescia, Italy.
authors.forename: Paolo
authors.initials: P
authors.lastname: Foini
authors.affiliation: The Jackson Laboratory, Bar Harbor, Maine, USA.
authors.forename: Jan
authors.initials: J
authors.lastname: Marshall
authors.affiliation: Division of Nephrology, Dialysis and Transplantation, Azienda Ospedaliero-Universitaria di Udine, Udine, Italy.
authors.forename: Alessandra
authors.initials: A
authors.lastname: Marega
authors.affiliation: Second Division of Nephrology, Spedali Civili di Brescia, Montichiari Hospital, Montichiari, Italy; Department of Nephrology, University of Brescia, Brescia, Italy. Electronic address: fscolar@tin.it.
authors.forename: Francesco
authors.initials: F
authors.lastname: Scolari
mesh_terms: D000328:Adult; D056769:Alstrom Syndrome / Q000235:genetics* / Q000473:pathology; D001706:Biopsy; D018797:Cell Cycle Proteins; D004252:DNA Mutational Analysis; D005260:Female; D020022:Genetic Predisposition to Disease; D006239:Haplotypes; D040941:Heredity; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D009395:Nephritis, Interstitial / Q000235:genetics* / Q000473:pathology; D010375:Pedigree; D010641:Phenotype; D011506:Proteins / Q000235:genetics*
chemical_list: C490729:ALMS1 protein, human; D018797:Cell Cycle Proteins; D011506:Proteins