Broadening the phenotypic and molecular spectrum of FINCA syndrome: Biallelic NHLRC2 variants in 15 novel individuals

European Journal of Human Genetics, Published online: 15 May 2023; doi:10.1038/s41431-023-01382-0Broadening the phenotypic and molecular spectrum of FINCA syndrome: Biallelic NHLRC2 variants in 15 novel individuals

Source: European Journal of Human Genetics - May 15, 2023 Category: Genetics & Stem Cells Authors: Henrike L. Sczakiel Max Zhao Brigitte Wollert-Wulf Magdalena Danyel Nadja Ehmke Corinna Stoltenburg Nadirah Damseh Motee Al-Ashhab Tugce B. Balci Matthew Osmond Andrea Andrade Jens Schallner Joseph Porrmann Kimberly McDonald Mingjuan Liao Henry Oppermann Source Type: research