Aagenaes syndrome/lymphedema cholestasis syndrome 1 is caused by a founder variant in the 5'-untranslated region of UNC45A.
Almaas R, Atneosen-Åsegg M, Ytre-Arne ME, Melheim M, Sorte HS, Cízková D, Reims HM, Bezrouk A, Harrison SP, Strand J, Hermansen JU, Andersen SS, Eiklid KL, Mokrý J, Sullivan GJ, Stray-Pedersen A.
Almaas R, et al. Among authors: mokry j.
J Hepatol. 2023 Oct;79(4):945-954. doi: 10.1016/j.jhep.2023.05.037. Epub 2023 Jun 14.
J Hepatol. 2023.
PMID: 37328071
Free article.