{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,22]],"date-time":"2025-10-22T03:00:50Z","timestamp":1761102050668},"reference-count":12,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2013,4,22]],"date-time":"2013-04-22T00:00:00Z","timestamp":1366588800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2013,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:label \/><jats:p>We present three patients with overlapping interstitial deletions of 19p13.3 identified by high resolution SNP microarray analysis. All three had a similar phenotype characterized by intellectual disability or developmental delay, structural heart abnormalities, large head relative to height and weight or macrocephaly, and minor facial anomalies. Deletion sizes ranged from 792\u2009Kb to 1.0\u2009Mb and included a common region arr [hg19] 19p13.3 (3,814,392\u20134,136,989), containing eight genes: <jats:italic>ZFR2<\/jats:italic>, <jats:italic>ATCAY<\/jats:italic>, <jats:italic>NMRK2<\/jats:italic>, <jats:italic>DAPK3<\/jats:italic>, <jats:italic>EEF2<\/jats:italic>, <jats:italic>PIAS4<\/jats:italic>, <jats:italic>ZBTB7A<\/jats:italic>, <jats:italic>MAP2K2<\/jats:italic>, and two non\u2010coding RNA's <jats:italic>MIR637<\/jats:italic> and <jats:italic>SNORDU37<\/jats:italic>. The patient phenotypes were compared with three previous single patient reports with similar interstitial 19p13.3 deletions and six additional patients from the DECIPHER and ISCA databases to determine if a common haploinsufficient phenotype for the region can be established. \u00a9 2013 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.35923","type":"journal-article","created":{"date-parts":[[2013,4,23]],"date-time":"2013-04-23T03:09:12Z","timestamp":1366686552000},"page":"1110-1116","source":"Crossref","is-referenced-by-count":12,"title":["Clinical Comparison of Overlapping Deletions of 19p13.3"],"prefix":"10.1002","volume":"161","author":[{"given":"Hiba","family":"Risheg","sequence":"first","affiliation":[{"name":"Laboratory Corporation of America\/Dynacare, Department of Cytogenetics Seattle, Washington"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Romela","family":"Pasion","sequence":"additional","affiliation":[{"name":"Laboratory Corporation of America, Center for Molecular Biology and Pathology, Department of Cytogenetics, Research Triangle Park North Carolina"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Stephanie","family":"Sacharow","sequence":"additional","affiliation":[{"name":"Mailman Center for Child Development, Department of Human Genetics University of Miami Miami, Florida"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Virginia","family":"Proud","sequence":"additional","affiliation":[{"name":"Children's Hospital of King's Daughter Norfolk, Virginia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"LaDonna","family":"Immken","sequence":"additional","affiliation":[{"name":"Specially for Children Austin, Texas"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Stuart","family":"Schwartz","sequence":"additional","affiliation":[{"name":"Laboratory Corporation of America, Center for Molecular Biology and Pathology, Department of Cytogenetics, Research Triangle Park North Carolina"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jim H.","family":"Tepperberg","sequence":"additional","affiliation":[{"name":"Laboratory Corporation of America, Center for Molecular Biology and Pathology, Department of Cytogenetics, Research Triangle Park North Carolina"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Peter","family":"Papenhausen","sequence":"additional","affiliation":[{"name":"Laboratory Corporation of America, Center for Molecular Biology and Pathology, Department of Cytogenetics, Research Triangle Park North Carolina"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tiong Y.","family":"Tan","sequence":"additional","affiliation":[{"name":"Victorian Clinical Genetics Services Murdoch Children's Research Institute, Royal Children's Hospital Melbourne Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Joris","family":"Andrieux","sequence":"additional","affiliation":[{"name":"Laboratoire de G\u00e9n\u00e9tique M\u00e9dicale Hopital Jeanne de Flandre CHRU, Lille France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ghislaine","family":"Plessis","sequence":"additional","affiliation":[{"name":"Service de G\u00e9n\u00e9tique CHU CAEN France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"David J.","family":"Amor","sequence":"additional","affiliation":[{"name":"Victorian Clinical Genetics Services Murdoch Children's Research Institute, Royal Children's Hospital Melbourne Australia"},{"name":"University of Melbourne Department of Pediatrics, Royal Children's Hospital Parkville Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elisabeth A.","family":"Keitges","sequence":"additional","affiliation":[{"name":"Laboratory Corporation of America\/Dynacare, Department of Cytogenetics Seattle, Washington"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2013,4,22]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33738"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1255"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1161\/01.RES.0000076893.70898.36"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33986"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2008.256"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.brainres.2006.10.068"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0012-1606(03)00304-X"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.1140881"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/5.4.525"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1159\/000320920"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M110.189829"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1523\/JNEUROSCI.0119-10.2010"}],"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.35923","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.35923","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,30]],"date-time":"2023-10-30T01:30:36Z","timestamp":1698629436000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.35923"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,4,22]]},"references-count":12,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2013,5]]}},"alternative-id":["10.1002\/ajmg.a.35923"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.35923","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2013,4,22]]}}}