Peritoneal dialysis in an adult patient with tetralogy of Fallot diagnosed with incomplete Alagille syndrome

Peritoneal dialysis in an adult patient with tetralogy of Fallot diagnosed with incomplete Alagille syndrome

Abstract Background Alagille syndrome is an autosomal dominant disorder usually caused by pathogenic variants of the JAG1 gene. In the past, cholestasis was a condition sine qua non for diagnosis of the syndrome. However, recent advancements in genetic testing have revealed that clinical presentatio...

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Bibliographic Details
Main Authors: Malgorzata Ponikowska, Agnieszka Pollak, Ewa Kotwica-Strzalek, Dorota Brodowska-Kania, Magdalena Mosakowska, Rafal Ploski, Stanislaw Niemczyk
Format: Article
Language:English
Published: BMC 2020-10-01
Series:BMC Medical Genetics
Subjects:
Alagille syndrome
JAG1 mutation
Tetralogy of Fallot
End-stage renal disease
Peritoneal dialysis
Online Access:http://link.springer.com/article/10.1186/s12881-020-01134-7

Internet

http://link.springer.com/article/10.1186/s12881-020-01134-7

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