Two new patients with acromesomelic dysplasia, PRKG2 type—identification and characterization of the first missense variant

European Journal of Human Genetics, Published online: 04 October 2023; doi:10.1038/s41431-023-01472-zTwo new patients with acromesomelic dysplasia, PRKG2 type—identification and characterization of the first missense variant

Source: European Journal of Human Genetics - October 4, 2023 Category: Genetics & Stem Cells Authors: Ozlem Akgun-Dogan Francisca D íaz-González Alexander Augusto de Lima Jorge Neslihan Onenli-Mungan Nathalia Liberatoscioli Menezes Andrade Laurana de Polli Cellin Serdar Ceylaner Maria Barcellos Rosa Modkovski Yasemin Alanay Karen E. Heath Source Type: research