Dysgenesis and Dysfunction of the Pancreas and Pituitary Due to FOXA2 Gene Defects.
Sare Betul KaygusuzEsra Arslan AtesMaria Lillina VignolaBurcu VolkanBilgen Bilge GeckinliSerap TuranAbdullah BereketCarles Gaston-MassuetTülay GüranPublished in: The Journal of clinical endocrinology and metabolism (2021)
Our 2 cases broaden the molecular and clinical spectrum of FOXA2-related disease, reporting the first nonsense mutation and the first case of pancreatic dysgenesis.