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We report the first Iranian patient with IMNEPD. We detected a pathogenic variant in the <jats:italic>PTRH2<\/jats:italic> gene (NM_016077.5: c.68T\u2009&gt;\u2009C, p.V23A). The proband has myopia, spastic diplegic cerebral palsy, urolithiasis, and a history of seizures.<\/jats:p>","DOI":"10.1038\/s41439-021-00147-9","type":"journal-article","created":{"date-parts":[[2021,6,10]],"date-time":"2021-06-10T04:02:55Z","timestamp":1623297775000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["A novel PTRH2 missense mutation causing IMNEPD: a case report"],"prefix":"10.1038","volume":"8","author":[{"given":"Hossein Jafari","family":"Khamirani","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5966-5590","authenticated-orcid":false,"given":"Sina","family":"Zoghi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mehdi","family":"Dianatpour","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Aria","family":"Jankhah","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Seyed Sajjad","family":"Tabei","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sanaz","family":"Mohammadi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Seyed Alireza","family":"Dastgheib","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2021,6,10]]},"reference":[{"key":"147_CR1","doi-asserted-by":"publisher","first-page":"3392","DOI":"10.1016\/S0021-9258(17)33450-6","volume":"251","author":"JR Menninger","year":"1976","unstructured":"Menninger, J. 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