https://www.selleckchem.com/pr....oducts/pf-07104091.h
Biallelic mutations in the PTF1A enhancer are the commonest cause of isolated pancreatic agenesis. These patients do not have severe neurological features associated with loss-of-function PTF1A mutations. Their clinical phenotype and disease progression have not been well characterized. To evaluate phenotype and genotype characteristics and long-term follow-up of patients with PTF1A enhancer mutations. Twelve tertiary pediatric endocrine referral centers. Thirty patients with diabetes caused by PTF1A enhancer mutations. Median follo