Combined pituitary hormone deficiency caused by PROP1 mutations: update 20 years post-discovery
Arch. endocrinol. metab. (Online); 63 (2), 2019
ABSTRACT The first description of patients with combined pituitary hormone deficiencies (CPHD) caused by PROP1 mutations was made 20 years ago. Here we updated the clinical and genetic characteristics of patients with PROP1 mutations and summarized the phenotypes of 14 patients with 7 different pathogeni...