Expanding the Spectrum of Endocrine Abnormalities Associated with SOX11-related Disorders.
Bang SunMaria I StamouSara L StockmanMark B CampbellLacey PlummerKathryn B SalnikovLeman Damla KotanA Kemal TopalogluFuki M HisamaErica E DavisStephanie B SeminaraRavikumar BalasubramanianPublished in: The Journal of clinical endocrinology and metabolism (2024)
Deleterious SOX11 variants cause IHH and other pituitary hormone deficiencies, suggesting that the human SOX11-associated disorder may stem from both hypothalamic and pituitary level defects.