Broadening the phenotypic and molecular spectrum of FINCA syndrome: Biallelic NHLRC2 variants in 15 novel individuals
扩大 FINCA 综合征的表型和分子谱:15 名新个体中的双等位基因 NHLRC2 变异
期刊:European Journal of Human Genetics
影响因子:3.7
doi:10.1038/s41431-023-01382-0
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, Konrad Platzer, Nadine Dierksen