A population-based survey of FBN1 variants in Iceland reveals underdiagnosis of Marfan syndrome

European Journal of Human Genetics, Published online: 08 September 2023; doi:10.1038/s41431-023-01455-0A population-based survey of FBN1 variants in Iceland reveals underdiagnosis of Marfan syndrome

Source: European Journal of Human Genetics - September 8, 2023 Category: Genetics & Stem Cells Authors: Elin Ola Klemenzdottir Gudny Anna Arnadottir Brynjar Orn Jensson Adalbjorg Jonasdottir Hildigunnur Katrinardottir Run Fridriksdottir Aslaug Jonasdottir Asgeir Sigurdsson Sigurjon Axel Gudjonsson Jon Johannes Jonsson Vigdis Stefansdottir Ragnar Danielsen A Source Type: research