Aagenaes syndrome/lymphedema cholestasis syndrome 1 is caused by a founder variant in the 5'-untranslated region of UNC45A. Almaas R, Atneosen-Asegg M, Ytre-Arne ME, Melheim M, et al. J Hepatol 2023 Jun 14:S0168-8278(23)00410-5. doi: 10.1016/j.jhep.2023.

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Amedeo Smart

Independent Medical Education

Almaas R, Atneosen-Asegg M, Ytre-Arne ME, Melheim M, et al. Aagenaes syndrome/lymphedema cholestasis syndrome 1 is caused by a founder variant in the 5'-untranslated region of UNC45A. J Hepatol 2023 Jun 14:S0168-8278(23)00410-5. doi: 10.1016/j.jhep.2023.
PMID: 37328071