Establishing the phenotypic spectrum of ZTTK syndrome by analysis of 52 individuals with variants in SON
通过分析 52 例 SON 基因变异个体,确定 ZTTK 综合征的表型谱。
期刊:European Journal of Human Genetics
影响因子:4.6
doi:10.1038/s41431-021-00960-4
Dingemans, Alexander J M; Truijen, Kim M G; Kim, Jung-Hyun; Alaçam, Zahide; Faivre, Laurence; Collins, Kathleen M; Gerkes, Erica H; van Haelst, Mieke; van de Laar, Ingrid M B H; Lindstrom, Kristin; Nizon, Mathilde; Pauling, James; Heropolitańska-Pliszka, Edyta; Plomp, Astrid S; Racine, Caroline; Sachdev, Rani; Sinnema, Margje; Skranes, Jon; Veenstra-Knol, Hermine E; Verberne, Eline A; Vulto-van Silfhout, Anneke T; Wilsterman, Marlon E F; Ahn, Eun-Young Erin; de Vries, Bert B A; Vissers, Lisenka E L M