Phenotypic continuum between Waardenburg syndrome and idiopathic hypogonadotropic hypogonadism in humans with SOX10 variants

Autor: Rojas, Rebecca A., Kutateladze, Anna A., Plummer, Lacey, Stamou, Maria, Keefe, David L., Jr, Salnikov, Kathryn 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
Zdroj: In Genetics in Medicine June 2023 25(6)
Databáze: ScienceDirect