Article
A New Unc45a 5'utr Variant In Patients With Aagenaes Syndrome.
American journal of medical genetics. Part A - 1 Jun 2025
Tan Turkan Turkut, Dogan Yusuf Can, Yilmaz Zehra Burcu, Avci Durmusalioglu Enise, Oguz Ezgi, Ayyildiz Durdugul Emecen, Isik Esra, Aydogdu Sema, Cogulu Ozgur, Atik Tahir
Abstract excerpt
Aagenaes syndrome, also known as lymphoedema cholestasis syndrome 1 (LCS1), is a rare autosomal recessive disorder characterized by neonatal cholestasis and chronic lymphedema, primarily affecting the lower extremities. The genetic basis for this syndrome was recently linked to a variant in the 5'-untranslated region (5'-UTR) of the UNC45A gene, located on chromosome 15q. This study aimed to identify the genetic...
Topics
Join the communities discussing this publication.