{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,19]],"date-time":"2026-10-19T15:56:52Z","timestamp":1792425412789,"version":"4.5.0"},"reference-count":10,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2025,1,14]],"date-time":"2025-01-14T00:00:00Z","timestamp":1736812800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/100017026","name":"Spastic Paraplegia Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100017026","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000065","name":"National Institute of Neurological Disorders and Stroke","doi-asserted-by":"publisher","award":["K08NS123552"],"award-info":[{"award-number":["K08NS123552"]}],"id":[{"id":"10.13039\/100000065","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100008440","name":"International Parkinson and Movement Disorder Society","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100008440","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Ann Clin Transl Neurol"],"published-print":{"date-parts":[[2025,2]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Uniparental isodisomy (UPiD) can cause mixed phenotypes of imprinting disorders and autosomal\u2010recessive diseases. We present the case of a 3\u2010year\u2010old male with a blended phenotype of <jats:italic>TECPR2<\/jats:italic>\u2010related hereditary sensory and autonomic neuropathy (HSAN9) and Temple syndrome (TS14) due to maternal UPiD of chromosome 14, which includes a loss\u2010of\u2010function founder variant in the <jats:italic>TECPR2<\/jats:italic> gene [NM_014844.5: c.1319del, p.Leu440Argfs*19]. This case illustrates challenges associated with a mixed phenotype of ultra\u2010rare disorders and underscores the importance of investigating recessive conditions in homozygosity regions when atypical clinical features occur in patients with well\u2010characterized imprinting disorders.<\/jats:p>","DOI":"10.1002\/acn3.52293","type":"journal-article","created":{"date-parts":[[2025,1,14]],"date-time":"2025-01-14T12:00:19Z","timestamp":1736856019000},"page":"448-451","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Blended phenotype of <scp><i>TECPR2<\/i><\/scp>\u2010associated hereditary sensory\u2010autonomic neuropathy and Temple syndrome"],"prefix":"10.1002","volume":"12","author":[{"given":"Umar","family":"Zubair","sequence":"first","affiliation":[{"name":"Department of Neurology, Movement Disorders Program Boston Children's Hospital, Harvard Medical School  Boston Massachusetts 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USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0026-4714","authenticated-orcid":false,"given":"Darius","family":"Ebrahimi\u2010Fakhari","sequence":"additional","affiliation":[{"name":"Department of Neurology, Movement Disorders Program Boston Children's Hospital, Harvard Medical School  Boston Massachusetts 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