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

Pathogenic SRY-box transcription factor 2 (SOX2) variants typically cause severe ocular defects within a SOX2 disorder spectrum that includes hypogonadotropic hypogonadism. We examined exome-sequencing data from a large, well-phenotyped cohort of patients with idiopathic hypogonadotropic hypogonadis...

Descripción completa

Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: American Society for Clinical Investigation 2023
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9977424/
https://www.ncbi.nlm.nih.gov/pubmed/36602867
http://dx.doi.org/10.1172/jci.insight.164324

Ejemplares similares

Ejemplares similares