Phenotype variability of infantile-onset multisystem neurologic, endocrine, and pancreatic disease IMNEPD
Infantile-onset multisystem neurologic, endocrine, and pancreatic disease (IMNEPD) has been recently linked to biallelic mutation of the peptidyl-tRNA hydrolase 2 gene PTRH2. Two index patients with IMNEPD in the...