{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,22]],"date-time":"2026-09-22T12:58:10Z","timestamp":1790081890263,"version":"4.0.1"},"reference-count":11,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2017,3,24]],"date-time":"2017-03-24T00:00:00Z","timestamp":1490313600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Congenital Anomalies"],"published-print":{"date-parts":[[2017,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>There have been several reports on 5q31.3 microdeletion syndrome. The overlapping deleted region includes purine\u2010rich element binding protein A (PURA), which encodes transcriptional activator protein Pur\u2010\u03b1. Patients with<jats:italic>PURA<\/jats:italic>mutations show moderate to severe neurodevelopmental delay and learning disability. Neonatal hypotonia, respiratory insufficiency, feeding difficulties, and seizures are often seen. Dysmorphic features including myopathic faces are helpful as clinical signs of the diagnosis. We report a patient with a novel<jats:italic>PURA<\/jats:italic>mutation detected by whole\u2010exome sequencing. We suggest that PURA abnormality is a recognizable syndrome.<\/jats:p>","DOI":"10.1111\/cga.12214","type":"journal-article","created":{"date-parts":[[2017,2,6]],"date-time":"2017-02-06T07:16:55Z","timestamp":1486365415000},"page":"201-204","source":"Crossref","is-referenced-by-count":17,"title":["Patient with a novel purine\u2010rich element binding protein A mutation"],"prefix":"10.1111","volume":"57","author":[{"given":"Nobuhiko","family":"Okamoto","sequence":"first","affiliation":[{"name":"Department of Medical Genetics Osaka Medical Center and Research Institute for Maternal and Child Health Osaka Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hideto","family":"Nakao","sequence":"additional","affiliation":[{"name":"Department of Neonatology Hyogo Prefectural Kobe Children's Hospital Perinatal Center Kobe Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tetsuya","family":"Niihori","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Tohoku University School of Medicine Sendai Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yoko","family":"Aoki","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Tohoku University School of Medicine Sendai Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2017,3,24]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2013.05.021"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.neuroscience.2016.09.018"},{"key":"e_1_2_8_4_1","doi-asserted-by":"crossref","first-page":"2604","DOI":"10.1002\/ajmg.a.36108","article-title":"5q31.3 Microdeletion syndrome: clinical and molecular characterization of two further cases","volume":"161","author":"Brown N","year":"2013","journal-title":"Am J Med Genet Part A"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature14135"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0907990106"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.35439"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2014-102798"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1128\/MCB.23.19.6857-6875.2003"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2014.09.014"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1101\/gr.107524.110"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33891"}],"container-title":["Congenital Anomalies"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fcga.12214","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cga.12214","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,6,22]],"date-time":"2024-06-22T09:03:46Z","timestamp":1719047026000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/cga.12214"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,3,24]]},"references-count":11,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2017,11]]}},"alternative-id":["10.1111\/cga.12214"],"URL":"https:\/\/doi.org\/10.1111\/cga.12214","archive":["Portico"],"relation":{},"ISSN":["0914-3505","1741-4520"],"issn-type":[{"value":"0914-3505","type":"print"},{"value":"1741-4520","type":"electronic"}],"subject":[],"published":{"date-parts":[[2017,3,24]]}}}