{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,17]],"date-time":"2026-09-17T11:25:36Z","timestamp":1789644336611,"version":"4.0.0"},"reference-count":15,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2017,1,22]],"date-time":"2017-01-22T00:00:00Z","timestamp":1485043200000},"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":[[2017,3]]},"abstract":"<jats:sec><jats:label\/><jats:p>We report a patient with aplasia cutis congenita, Duane anomaly, hip dysplasia, and other anomalies who had a de novo missense variant in <jats:italic>UBA2<\/jats:italic>, which encodes for a protein involved in the SUMOylation pathway. It has previously been suggested that <jats:italic>UBA2<\/jats:italic> haploinsufficiency underlies scalp defects in the 19q13.11 deletion syndrome. We propose that disturbance of the SUMOylation pathway, mediated by pathogenic variants in <jats:italic>UBA2<\/jats:italic>, is a novel mechanism for aplasia cutis congenita and other phenotypic abnormalities. \u00a9 2017 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.38078","type":"journal-article","created":{"date-parts":[[2017,1,22]],"date-time":"2017-01-22T16:12:40Z","timestamp":1485101560000},"page":"758-761","source":"Crossref","is-referenced-by-count":17,"title":["Missense variant in <i>UBA2<\/i> associated with aplasia cutis congenita, duane anomaly, hip dysplasia and other anomalies: A possible new disorder involving the SUMOylation pathway"],"prefix":"10.1002","volume":"173","author":[{"given":"Michael","family":"Marble","sequence":"first","affiliation":[{"name":"Division of Clinical Genetics and Metabolism Department of Pediatrics Louisiana State University Health Sciences Center New Orleans Louisiana"},{"name":"Children's Hospital of New Orleans New Orleans Louisiana"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria J.","family":"Guillen Sacoto","sequence":"additional","affiliation":[{"name":"GeneDx Gaithersburg Maryland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rashmi","family":"Chikarmane","sequence":"additional","affiliation":[{"name":"GeneDx Gaithersburg Maryland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dominic","family":"Gargiulo","sequence":"additional","affiliation":[{"name":"Children's Hospital of New Orleans New Orleans Louisiana"},{"name":"Division of Pediatric Orthopedics Department of Orthopedics Louisiana State University Health Sciences Center New Orleans Louisiana"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jane","family":"Juusola","sequence":"additional","affiliation":[{"name":"GeneDx Gaithersburg Maryland"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2017,1,22]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.celrep.2016.06.056"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2009.03.010"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2012.19"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19980605)77:5<391::AID-AJMG7>3.0.CO;2-Q"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/onc.2014.319"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2008.062034"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1003573"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/jid.2014.413"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13039-015-0123-x"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1080\/15384101.2016.1182267"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1006\/bbrc.1998.9995"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1161\/CIRCGENETICS.115.001086"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2014.07.011"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2015.07.014"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13039-014-0061-z"}],"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.38078","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.38078","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,24]],"date-time":"2023-09-24T06:23:51Z","timestamp":1695536631000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.38078"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,1,22]]},"references-count":15,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2017,3]]}},"alternative-id":["10.1002\/ajmg.a.38078"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.38078","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2017,1,22]]}}}