Identification of a founder variant AAGAB c.370C & gt;T, p.Arg124Ter in patients with punctate palmoplantar keratoderma in Southern Denmark

This study confirms that the frequently observed variant AAGAB c.370C>T, p.Arg124Ter in punctate PPK among patients in the Region of Southern Denmark is caused by a founder variant. We recommend testing for the variant as initial screening in our region and potentially for all Danish patients presenting with punctate PPK.PMID:38311882 | DOI:10.1111/cge.14486

Source: Clinical Genetics - February 5, 2024 Category: Genetics & Stem Cells Authors: Stine Bj ørn Gram Anne Sofie Fredberg J ørgensen Anette Bygum Klaus Brusgaard Lilian Bomme Ousager Source Type: research