{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,17]],"date-time":"2026-08-17T14:25:18Z","timestamp":1786976718936,"version":"build-2736575974"},"reference-count":20,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2017,4,21]],"date-time":"2017-04-21T00:00:00Z","timestamp":1492732800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100000233","name":"Genome British Columbia","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000233","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000024","name":"Canadian Institutes of Health Research","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000024","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100008762","name":"Genome Canada","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100008762","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000092","name":"Ontario Genomics Institute","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000092","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2017,6]]},"abstract":"<jats:sec>\n                    <jats:label\/>\n                    <jats:p>Distal deletion of the long arm of chromosome 10 is associated with a dysmorphic craniofacial appearance, microcephaly, behavioral issues, developmental delay, intellectual disability, and ocular, urogenital, and limb abnormalities. Herein, we present clinical, molecular, and cytogenetic investigations of four patients, including two siblings, with nearly identical terminal deletions of 10q26.3, all of whom have an atypical presentation of this syndrome. Their prominent features include ataxia, mild\u2010to\u2010moderate intellectual disability, and hyperemia of the hands and feet, and they do not display many of the other features commonly associated with deletions of this region. These results point to a novel gene locus associated with ataxia and highlight the variability of the clinical presentation of patients with deletions of this region.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/ajmg.a.38231","type":"journal-article","created":{"date-parts":[[2017,4,22]],"date-time":"2017-04-22T00:57:44Z","timestamp":1492822664000},"page":"1611-1619","source":"Crossref","is-referenced-by-count":9,"title":["Expansion of the clinical phenotype of the distal 10q26.3 deletion syndrome to include ataxia and hyperemia of the hands and feet"],"prefix":"10.1002","volume":"173","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-2249-063X","authenticated-orcid":false,"given":"Melanie","family":"Lacaria","sequence":"first","affiliation":[{"name":"Department of Genetics Children's Hospital of Eastern Ontario Ottawa Ontario"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Myriam","family":"Srour","sequence":"additional","affiliation":[{"name":"Department of Neurology and Neurosurgery McGill University Montreal Quebec"},{"name":"Department of Pediatrics McGill University Montreal Quebec"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jacques L.","family":"Michaud","sequence":"additional","affiliation":[{"name":"Research Center Centre Hospitalier Universitaire Sainte\u2010Justine Montreal Quebec"},{"name":"Department of Pediatrics Universite de Montreal Montreal Quebec"},{"name":"Department of Neurosciences Universite de Montreal Montreal Quebec"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Asif","family":"Doja","sequence":"additional","affiliation":[{"name":"Children's Hospital of Eastern Ontario Research Institute Ottawa Ontario"},{"name":"Division of Neurology Children's Hospital of Eastern Ontario Ottawa Ontario"},{"name":"Faculty of Medicine University of Ottawa Ottawa Ontario"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elka","family":"Miller","sequence":"additional","affiliation":[{"name":"Department of Medical Imaging Children's Hospital of Eastern Ontario Ottawa Ontario"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jeremy","family":"Schwartzentruber","sequence":"additional","affiliation":[{"name":"Department of Human Genetics McGill University Montreal Quebec"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claire","family":"Goldsmith","sequence":"additional","affiliation":[{"name":"Department of Genetics Children's Hospital of Eastern Ontario Ottawa Ontario"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jacek","family":"Majewski","sequence":"additional","affiliation":[{"name":"Department of Human Genetics McGill University Montreal Quebec"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"name":"FORGE Canada Consortium","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kym M.","family":"Boycott","sequence":"additional","affiliation":[{"name":"Department of Genetics Children's Hospital of Eastern Ontario Ottawa Ontario"},{"name":"Children's Hospital of Eastern Ontario Research Institute Ottawa Ontario"},{"name":"Faculty of Medicine University of Ottawa Ottawa Ontario"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2017,4,21]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2014.05.003"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2014.09.002"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-013-1364-6"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31053"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.37448"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2012.08.005"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1155\/2014\/505832"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.20220"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1523\/JNEUROSCI.1643-12.2012"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.mp.4001737"},{"issue":"4","key":"e_1_2_5_12_1","first-page":"417","article-title":"Small terminal 10q26 deletion in a male patient with Noonan\u2010like stigmata: Diagnosis by cytogenetic and FISH analysis","volume":"13","author":"Lukasa T.","year":"2002","journal-title":"Genetic Counselling"},{"key":"e_1_2_5_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32705"},{"key":"e_1_2_5_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2013.11.002"},{"key":"e_1_2_5_15_1","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/btt151"},{"key":"e_1_2_5_16_1","doi-asserted-by":"publisher","DOI":"10.1155\/2015\/242891"},{"key":"e_1_2_5_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2015.01.002"},{"key":"e_1_2_5_18_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.36949"},{"key":"e_1_2_5_19_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320320319"},{"key":"e_1_2_5_20_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10048-015-0450-4"},{"key":"e_1_2_5_21_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2008.01115.x"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.38231","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.38231","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,6]],"date-time":"2023-10-06T07:09:55Z","timestamp":1696576195000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.38231"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,4,21]]},"references-count":20,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2017,6]]}},"alternative-id":["10.1002\/ajmg.a.38231"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.38231","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2017,4,21]]}}}