A novel PTRH2 missense mutation causing IMNEPD: a case report.
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ABSTRACT: 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.
SUBMITTER: Khamirani HJ
PROVIDER: S-EPMC8192544 | biostudies-literature |
REPOSITORIES: biostudies-literature
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