Rotor Syndrome.
Jirsa M, Knisely AS, Schinkel A, Kmoch S.
Jirsa M, et al.
2012 Dec 13 [updated 2019 Jul 11]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024.
2012 Dec 13 [updated 2019 Jul 11]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024.
PMID: 23236639
Free Books & Documents.
Review.
DIAGNOSIS/TESTING: The diagnosis of Rotor syndrome is established in a proband with isolated, predominantly conjugated hyperbilirubinemia without cholestasis or liver injury and typical findings on cholescintigraphy. Identification of biallelic pathogenic variants in SLCO1 …
DIAGNOSIS/TESTING: The diagnosis of Rotor syndrome is established in a proband with isolated, predominantly conjugated hyperbilirubinemia wi …