Phenotypic continuum between Waardenburg syndrome and idiopathic hypogonadotropic hypogonadism in humans with SOX10 variants
SOX10变异型人类中瓦尔登堡综合征与特发性低促性腺激素性性腺功能减退症之间的表型连续性
期刊:Genetics in Medicine
影响因子:6.2
doi:10.1038/s41436-020-01051-3
Rojas, Rebecca A; Kutateladze, Anna A; Plummer, Lacey; Stamou, Maria; Keefe, David L Jr; Salnikov, Kathyrn B; Delaney, Angela; Hall, Janet E; Sadreyev, Ruslan; Ji, Fei; Fliers, Eric; Gambosova, Katarina; Quinton, Richard; Merino, Paulina M; Mericq, Veronica; Seminara, Stephanie B; Crowley, William F Jr; Balasubramanian, Ravikumar