Hypomorphic Pathogenic Variants in TAF13 Are Associated with Autosomal-Recessive Intellectual Disability and Microcephaly.
TAF13 中的低功能致病变异与常染色体隐性遗传性智力障碍和小头畸形有关
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2017.01.032
Tawamie Hasan, Martianov Igor, Wohlfahrt Natalie, Buchert Rebecca, Mengus Gabrielle, Uebe Steffen, Janiri Luigi, Hirsch Franz Wolfgang, Schumacher Johannes, Ferrazzi Fulvia, Sticht Heinrich, Reis André, Davidson Irwin, Colombo Roberto, Abou Jamra Rami
