FRI285 Evidence For ZIC1 As A Novel Gene For Isolated Hypogonadotropic Hypogonadism With Phenotypic Pleiotropic Intersection With Cerebellar Malformation

por Cassin, Jessica, Keefe, David L, Sung, Kaitlin E, Bojo, Celine C, Santiago, Gisselle, Plummer, Lacey, Salnikov, Kathryn B, Seminara, Stephanie B, Balasubramania, Ravikumar, Mellon, Pamela L
Publicado 2023

Heterozygous mutations in SOX2 may cause idiopathic hypogonadotropic hypogonadism via dominant-negative mechanisms

por Cassin, Jessica, Stamou, Maria I., Keefe, Kimberly W., Sung, Kaitlin E., Bojo, Celine C., Tonsfeldt, Karen J., Rojas, Rebecca A., Ferreira Lopes, Vanessa, Plummer, Lacey, Salnikov, Kathryn B., Keefe, David L., Ozata, Metin, Genel, Myron, Georgopoulos, Neoklis A., Hall, Janet E., Crowley, William F., Seminara, Stephanie B., Mellon, Pamela L., Balasubramanian, Ravikumar
Publicado 2023