Co-existence of ABCB11 and DCDC2 disease: Infantile cholestasis requires both next-generation sequencing and clinical-histopathologic correlation
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics(clinical),Genetics
Link
http://www.nature.com/articles/s41431-020-0613-0.pdf
Reference17 articles.
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2. Bull LN, Thompson RJ. Progressive familial intrahepatic cholestasis. Clin liver Dis. 2018;22:657–69.
3. Knisely AS, Gissen P. Trafficking and transporter disorders in pediatric cholestasis. Clin liver Dis. 2010;14:619–33.
4. Sambrotta M, Strautnieks S, Papouli E, Rushton P, Clark BE, Parry DA, et al. Mutations in TJP2 cause progressive cholestatic liver disease. Nat Genet. 2014;46:326–8.
5. Pawlikowska L, Strautnieks S, Jankowska I, Czubkowski P, Emerick K, Antoniou A, et al. Differences in presentation and progression between severe FIC1 and BSEP deficiencies. J Hepatol. 2010;53:170–8.
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