First case of Hajdu-Cheney syndrome in Lithuania caused by novel NOTCH2 gene likely pathogenic variant

We report first familial case of HCS caused by likely pathogenic variant of NOTCH2 gene c.6449delC, p.(Pro2150LeufsTer5).PMID:38580081 | DOI:10.1016/j.ejmg.2024.104938

Source: European Journal of Medical Genetics - April 5, 2024 Category: Genetics & Stem Cells Authors: Ieva Tevelyte Paulius Bertasius Kristina Aleknaviciene Rimvydas Jonikas Justina Klimaite Edita Jasinskiene Rasa Traberg Source Type: research