Aagenaes syndrome/lymphedema cholestasis syndrome 1 is caused by a founder variant in the 5’-untranslated region of UNC45A-Reference-Cited by-同舟云学术

Aagenaes syndrome/lymphedema cholestasis syndrome 1 is caused by a founder variant in the 5’-untranslated region of UNC45A

Published:2023-10 Issue:4 Volume:79 Page:945-954
ISSN:0168-8278
Container-title:Journal of Hepatology
language:en
Short-container-title:Journal of Hepatology

Author:

Almaas Runar^ORCID,Atneosen-Åsegg Monica,Ytre-Arne Mari Eknes,Melheim Maria,Sorte Hanne Sørmo,Cízková Dana^ORCID,Reims Henrik Mikael^ORCID,Bezrouk Aleš,Harrison Sean Philip^ORCID,Strand Janne,Hermansen Johanne Uthus^ORCID,Andersen Sofie Strøm,Eiklid Kristin Louise,Mokrý Jaroslav^ORCID,Sullivan Gareth John^ORCID,Stray-Pedersen Asbjørg

Publisher

Elsevier BV

Subject

Hepatology

Reference30 articles.

1. Hereditary recurrent intrahepatic cholestasis from birth;Aagenaes;Arch Dis Child,1968

2. Hereditary cholestasis with lymphoedema (Aagenaes syndrome, cholestasis-lymphoedema syndrome). New cases and follow-up from infancy to adult age;Aagenaes;Scand J Gastroenterol,1998

3. Partial biliary diversion may promote long term relief of pruritus and native liver survival in children with cholestatic liver diseases;Bjørnland;Eur J Pediatr Surg,2021

4. MicroRNA in dried blood spots from patients with Aagenaes syndrome and evaluation of pre-analytical and analytical factors;Atneosen-Åsegg;Pediatr Res,2021

5. Primary lymphoedema combined with hereditary recurrent intrahepatic cholestasis;Sigstad;Acta Med Scand,1970

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