Modulation of PC1/3 activity by a rare double-site homozygous mutation

• Main Authors: Yanyan Ni (Author), Xiangxiang Chen (Author), Yi Sun (Author), Jiarong Pan (Author), Chao Tang (Author), Tianming Yuan (Author)
• Format: Book
• Published: Frontiers Media S.A., 2022-10-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

ObjectivesPreprotein convertase 1/3 deficiency is a rare autosomal recessive disorder in which patients present with malabsorptive diarrhea and a series of symptoms of endocrine disorders such as polydipsia, reactive hypoglycemia, growth hormone deficiency, hypothyroidism, adrenal insufficiency, and...