PTRH2 deficiency is associated with an extremely rare disease, infantile-onset multisystem neurologic, endocrine, and pancreatic disease (IMNEPD). We report the first Iranian patient with IMNEPD. We detected a pathogenic variant in the PTRH2 gene (NM_016077.5: c.68T > C, p.V23A). The proband has myopia, spastic diplegic cerebral palsy, urolithiasis, and a history of seizures.
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|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8192544 | PMC |
| http://dx.doi.org/10.1038/s41439-021-00147-9 | DOI Listing |
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