Clin Exp Pediatr.
2023 May;66(5):223-225. 10.3345/cep.2022.01074.
Novel PTRH2 gene variant causing IMNEPD (infantile-onset multisystem neurologic, endocrine, and pancreatic disease) in 2 Saudi siblings
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- 1Department of Pediatrics, College of Medicine, Imam Abdulrahman Bin Faisal University, Dammam, Saudi Arabia
- KMID: 2541873
- DOI: http://doi.org/10.3345/cep.2022.01074
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