SOX11 variants cause a neurodevelopmental disorder with infrequent ocular malformations and hypogonadotropic hypogonadism and with distinct DNA methylation profile
SOX11 变异会导致神经发育障碍，伴有罕见的眼部畸形和促性腺激素功能低下症，以及独特的 DNA 甲基化特征
期刊:Genetics in Medicine
影响因子:6.6
doi:10.1016/j.gim.2022.02.013
Reem Al-Jawahiri, Aidin Foroutan, Jennifer Kerkhof, Haley McConkey, Michael Levy, Sadegheh Haghshenas, Kathleen Rooney, Jasmin Turner, Debbie Shears, Muriel Holder, Henrietta Lefroy, Bruce Castle, Linda M Reis, Elena V Semina; University of Washington Centre for Mendelian Genomics (UW-CMG); Katherin
