{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,3]],"date-time":"2026-06-03T00:11:41Z","timestamp":1780445501253,"version":"3.54.1"},"reference-count":12,"publisher":"Elsevier BV","issue":"5","license":[{"start":{"date-parts":[[2018,5,1]],"date-time":"2018-05-01T00:00:00Z","timestamp":1525132800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2018,5,1]],"date-time":"2018-05-01T00:00:00Z","timestamp":1525132800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"funder":[{"DOI":"10.13039\/501100003196","name":"Italian Ministry of Health","doi-asserted-by":"publisher","award":["RC1701GM04"],"award-info":[{"award-number":["RC1701GM04"]}],"id":[{"id":"10.13039\/501100003196","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003196","name":"Italian Ministry of Health","doi-asserted-by":"publisher","award":["RF2011-02350693"],"award-info":[{"award-number":["RF2011-02350693"]}],"id":[{"id":"10.13039\/501100003196","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["European Journal of Medical Genetics"],"published-print":{"date-parts":[[2018,5]]},"DOI":"10.1016\/j.ejmg.2017.12.008","type":"journal-article","created":{"date-parts":[[2017,12,20]],"date-time":"2017-12-20T03:04:40Z","timestamp":1513739080000},"page":"248-252","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":13,"title":["Refinement of the critical 7p22.1 deletion region: Haploinsufficiency of ACTB is the cause of the 7p22.1 microdeletion-related developmental disorders"],"prefix":"10.1016","volume":"61","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6583-3482","authenticated-orcid":false,"given":"Orazio","family":"Palumbo","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria","family":"Accadia","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9498-9902","authenticated-orcid":false,"given":"Pietro","family":"Palumbo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3182-4494","authenticated-orcid":false,"given":"Maria Pia","family":"Leone","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Antonio","family":"Scorrano","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Teresa","family":"Palladino","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Raffaella","family":"Stallone","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7121-7712","authenticated-orcid":false,"given":"Maria Clara","family":"Bonaglia","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6830-6829","authenticated-orcid":false,"given":"Massimo","family":"Carella","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"issue":"21","key":"10.1016\/j.ejmg.2017.12.008_bib1","doi-asserted-by":"crossref","first-page":"4047","DOI":"10.1091\/mbc.e11-06-0582","article-title":"\u03b2-actin specifically controls cell growth, migration, and the G-actin pool","volume":"22","author":"Bunnell","year":"2011","journal-title":"Mol. Biol. Cell"},{"issue":"11","key":"10.1016\/j.ejmg.2017.12.008_bib2","first-page":"578","article-title":"7p22.1 microduplication syndrome: clinical and molecular characterization of an adult case and review of the literature","volume":"58","author":"Caselli","year":"2015","journal-title":"Eur. J. Hum. Genet."},{"issue":"10","key":"10.1016\/j.ejmg.2017.12.008_bib3","doi-asserted-by":"crossref","first-page":"2508","DOI":"10.1002\/ajmg.a.34180","article-title":"Clinical and molecular characterization of chromosome 7p22.1 microduplication detected by array CGH","volume":"155A","author":"Chui","year":"2011","journal-title":"Am. J. Med. Genet."},{"issue":"4","key":"10.1016\/j.ejmg.2017.12.008_bib4","doi-asserted-by":"crossref","first-page":"524","DOI":"10.1016\/j.ajhg.2009.03.010","article-title":"DECIPHER: database of chromosomal imbalance and phenotype in humans using ensemble resources","volume":"84","author":"Firth","year":"2009","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ejmg.2017.12.008_bib5","first-page":"212436","article-title":"Case of 7p22.1 microduplication detected by whole genome microarray (REVEAL) in workup of child diagnosed with autism","volume":"2015","author":"Goitia","year":"2015","journal-title":"Case Rep. Genet."},{"key":"10.1016\/j.ejmg.2017.12.008_bib6","doi-asserted-by":"crossref","first-page":"e1001154","DOI":"10.1371\/journal.pgen.1001154","article-title":"Characterising and predicting haploinsufficiency in the human genome","volume":"6","author":"Huang","year":"2010","journal-title":"PLoS Genet."},{"issue":"3","key":"10.1016\/j.ejmg.2017.12.008_bib7","doi-asserted-by":"crossref","first-page":"828","DOI":"10.1002\/ajmg.a.36363","article-title":"TBR1 is the candidate gene for intellectual disability in patients with a 2q24.2 interstitial deletion","volume":"164A","author":"Palumbo","year":"2014","journal-title":"Am. J. Med. Genet."},{"issue":"11","key":"10.1016\/j.ejmg.2017.12.008_bib8","doi-asserted-by":"crossref","first-page":"2964","DOI":"10.1002\/ajmg.a.36715","article-title":"Refinement of the critical region in a new 7p22.1 microduplication syndrome including craniofacial dysmorphism and speech delay","volume":"164A","author":"Pebrel-Richard","year":"2014","journal-title":"Am. J. Med. Genet."},{"issue":"5","key":"10.1016\/j.ejmg.2017.12.008_bib9","doi-asserted-by":"crossref","first-page":"1200","DOI":"10.1002\/ajmg.a.35300","article-title":"Clinical and molecular characterization of a second case of 7p22.1 microduplication","volume":"158A","author":"Preiksaitiene","year":"2012","journal-title":"Am. J. Med. Genet."},{"issue":"2","key":"10.1016\/j.ejmg.2017.12.008_bib10","first-page":"114","article-title":"7p22.1 microduplication syndrome: refinement of the critical region","volume":"60","author":"Ronzoni","year":"2017","journal-title":"Eur. J. Hum. Genet."},{"issue":"10","key":"10.1016\/j.ejmg.2017.12.008_bib11","doi-asserted-by":"crossref","first-page":"502","DOI":"10.1016\/j.ejmg.2016.09.008","article-title":"7p22.1 microdeletions involving ACTB associated with developmental delay, short stature, and microcephaly","volume":"59","author":"Shimojima","year":"2016","journal-title":"Eur. J. Med. Genet."},{"issue":"3","key":"10.1016\/j.ejmg.2017.12.008_bib12","doi-asserted-by":"crossref","first-page":"292","DOI":"10.1038\/ejhg.2014.95","article-title":"Baraitsere Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases","volume":"23","author":"Verloes","year":"2015","journal-title":"Eur. J. Hum. Genet."}],"container-title":["European Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1769721217307140?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1769721217307140?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T03:45:03Z","timestamp":1761709503000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1769721217307140"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,5]]},"references-count":12,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2018,5]]}},"alternative-id":["S1769721217307140"],"URL":"https:\/\/doi.org\/10.1016\/j.ejmg.2017.12.008","relation":{},"ISSN":["1769-7212"],"issn-type":[{"value":"1769-7212","type":"print"}],"subject":[],"published":{"date-parts":[[2018,5]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Refinement of the critical 7p22.1 deletion region: Haploinsufficiency of ACTB is the cause of the 7p22.1 microdeletion-related developmental disorders","name":"articletitle","label":"Article Title"},{"value":"European Journal of Medical Genetics","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ejmg.2017.12.008","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2017 Elsevier Masson SAS. All rights reserved.","name":"copyright","label":"Copyright"}]}}