Biallelic variants in RYR1 and STAC3 are predominant causes of King-Denborough Syndrome in an African cohort.
RYR1 和 STAC3 的双等位基因变异是非洲人群中 King-Denborough 综合征的主要原因
期刊:European Journal of Human Genetics
影响因子:4.6
doi:10.1038/s41431-025-01795-z
Schoonen Maryke, Fassad Mahmoud, Patel Krutik, Bisschoff Michelle, Vorster Armand, Makwikwi Tendai, Human Ronel, Lubbe Elsa, Nonyane Malebo, Vorster Barend C, Vandrovcova Jana, Hanna Michael G, Taylor Robert W, McFarland Robert, Wilson Lindsay A, van der Westhuizen Francois H, Smuts Izelle
