Associated Papers
The neurological core features of the infantile-onset multisystem neurologic, endocrine, and pancreatic disease: A novel nonsense mutation in an Italian family.
Mammi A et al.
Journal of the Peripheral Nervous System : Jpns, 2024
Novel PTRH2 gene variant causing IMNEPD (infantile-onset multisystem neurologic, endocrine, and pancreatic disease) in 2 Saudi siblings.
Bubshait DK
Clinical and Experimental Pediatrics, 2023
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