Publications by authors named "Sherif El-Refee"
Novel gene mutation associated with SHORT syndrome: a case report of a 15-year-old female.
J Pediatr Endocrinol Metab
December 2024
Article Synopsis
- A 15-year-old female with SHORT syndrome faced diagnostic challenges, starting with skin darkening and elevated blood glucose leading to a diabetes diagnosis without typical symptoms.
- Genetic testing revealed a novel mutation in the PIK3R1 gene, which played a critical role in her treatment and management.
- This case emphasizes the need for comprehensive evaluations in complex conditions and highlights the significance of personalized treatment strategies based on genetic findings.