Eur J Endocrinol 2022 Mar 23;186(5):543-552. Epub 2022 Mar 23.
Division of Paediatric Endocrinology, Department of Paediatrics, Willem-Alexander Children's Hospital, Leiden University Medical Center, Leiden, Netherlands.
Objective: To describe clinical, laboratory, and genetic characteristics of three unrelated cases from Chile, Portugal, and Saudi Arabia with severe insulin resistance, SOFT syndrome, and biallelic pathogenic POC1A variants.
Design: Observational study.
Methods: Probands' phenotypes, including short stature, dysmorphism, and insulin resistance, were compared with previous reports. Read More