{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,26]],"date-time":"2025-11-26T15:51:08Z","timestamp":1764172268020,"version":"3.37.3"},"reference-count":9,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2017,4,14]],"date-time":"2017-04-14T00:00:00Z","timestamp":1492128000000},"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":[[2017,7]]},"abstract":"<jats:sec><jats:label\/><jats:p>The phenotypic manifestations of microdeletions in the 19q13.32 region are still poorly known. In this paper we report a patient who presented with hypotonia, developmental delay, facial dysmorphism, micrognathia, kyphoscoliosis, and buried penis. Chromosomal microarray revealed an interstitial 327\u2009kb de novo microdeletion in the 19q13.32 region comprising eight genes (<jats:italic>ARGHAP35<\/jats:italic>, <jats:italic>NPAS1<\/jats:italic>, <jats:italic>TMEM160<\/jats:italic>, <jats:italic>ZC3H4<\/jats:italic>, <jats:italic>SAE1<\/jats:italic>, <jats:italic>BBC3<\/jats:italic>, <jats:italic>MIR3190<\/jats:italic>, and <jats:italic>MIR3191<\/jats:italic>). Previously reported cases of microdeletions in the 19q13.32 region were reviewed and compared to our patient, highlighting the common features of a possible 19q13.32 microdeletion syndrome.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.38256","type":"journal-article","created":{"date-parts":[[2017,4,15]],"date-time":"2017-04-15T02:36:40Z","timestamp":1492223800000},"page":"1970-1974","source":"Crossref","is-referenced-by-count":3,"title":["Phenotypic expression of 19q13.32 microdeletions: Report of a new patient and review of the literature"],"prefix":"10.1002","volume":"173","author":[{"given":"Laura","family":"Travan","sequence":"first","affiliation":[{"name":"Department of Perinatal Medicine Institute for Maternal and Child Health IRCCS Burlo Garofolo Trieste Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1915-9965","authenticated-orcid":false,"given":"Samuele","family":"Naviglio","sequence":"additional","affiliation":[{"name":"Department of Medicine, Surgery, and Health Sciences University of Trieste Trieste Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Angela","family":"De Cunto","sequence":"additional","affiliation":[{"name":"Department of Perinatal Medicine Institute for Maternal and Child Health IRCCS Burlo Garofolo Trieste Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andrea","family":"Pellegrin","sequence":"additional","affiliation":[{"name":"Department of Pediatric Radiology Institute for Maternal and Child Health IRCCS Burlo Garofolo Trieste Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vanna","family":"Pecile","sequence":"additional","affiliation":[{"name":"Department of Genetics Institute for Maternal and Child Health IRCCS Burlo Garofolo Trieste Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alessandro Mauro","family":"Spinelli","sequence":"additional","affiliation":[{"name":"University of Padua Padua Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Stefania","family":"Cappellani","sequence":"additional","affiliation":[{"name":"Department of Genetics Institute for Maternal and Child Health IRCCS Burlo Garofolo Trieste Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Flavio","family":"Faletra","sequence":"additional","affiliation":[{"name":"Department of Genetics Institute for Maternal and Child Health IRCCS Burlo Garofolo Trieste Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2017,4,14]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2014.08.009"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.1114297"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0053122"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/jcp.22184"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2008.09.007"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature07765"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1006\/bbrc.1998.9995"},{"key":"e_1_2_6_9_1","doi-asserted-by":"crossref","first-page":"1665","DOI":"10.1534\/g3.112.004689","article-title":"A discovery resource of rare copy number variations in individuals with autism spectrum disorder","volume":"2","author":"Prasad A.","year":"2012","journal-title":"G3 Genes Genomes Genetics"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.neuron.2014.10.040"}],"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.38256","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.38256","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,6]],"date-time":"2023-10-06T18:39:25Z","timestamp":1696617565000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.38256"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,4,14]]},"references-count":9,"journal-issue":{"issue":"7","published-print":{"date-parts":[[2017,7]]}},"alternative-id":["10.1002\/ajmg.a.38256"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.38256","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"type":"print","value":"1552-4825"},{"type":"electronic","value":"1552-4833"}],"subject":[],"published":{"date-parts":[[2017,4,14]]}}}