Mutational spectrum of EDA, EDAR, EDARADD, and WNT10A genes in the largest cohort of Russian patients with hypohidrotic ectodermal dysplasia
俄罗斯最大规模少汗型外胚层发育不良患者队列中EDA、EDAR、EDARADD和WNT10A基因的突变谱
期刊:Orphanet Journal of Rare Diseases
影响因子:3.5
doi:10.1186/s13023-026-04211-x
Kovalskaia, Valeriia A; Cherevatova, Tatiana B; Zinina, Elena V; Shagina, Olga A; Vorontsova, Ekaterina O; Matyushchenko, Galina N; Demina, Nina A; Petukhova, Marina P; Markova, Tatiana V; Guseva, Daria M; Galkina, Varvara A; Anisimova, Inga V; Stepanova, Anna A; Chuhrova, Alena L; Sharova, Margarita V; Bostanova, Fatima M; Voskanyan, Anahit E; Polyakov, Aleksander V; Ryzhkova, Oxana P