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Novel PTRH2 gene variant causing IMNEPD (infantile-onset multisystem neurologic, endocrine, and pancreatic disease) in 2 Saudi siblings
Dalal K. Bubshait
Clin Exp Pediatr. 2023;66(5):223-225. Published online 2023 Mar 23 DOI: https://doi.org/10.3345/cep.2022.01074
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Citations to this article as recorded by
 The neurological core features of the infantile‐onset multisystem neurologic, endocrine, and pancreatic disease: A novel nonsense mutation in an Italian family
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