{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,29]],"date-time":"2026-04-29T10:09:54Z","timestamp":1777457394499,"version":"3.51.4"},"reference-count":8,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2012,12,13]],"date-time":"2012-12-13T00:00:00Z","timestamp":1355356800000},"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":[[2013,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Microdeletions of 8q21.3\u20138q22.1 have been identified in all patients with Nablus mask\u2010like facial syndrome (NMLFS). A recent report of a patient without this specific phenotype presented a 1.6\u2009Mb deletion in this region that partially overlapped with previously reported 8q21.3 microdeletions, thus restricting critical region for this syndrome. We report on another case of an 8q21.3 deletion revealed by array comparative genome hybridization (aCGH) in a 4\u2010year\u2010old child with global developmental delay, autism, microcephaly, but without Nablus phenotype. The size of the interstitial deletion was estimated to span 5.2\u2009Mb. By combining the data from previous reports on 8q21.3\u20138q22.1 deletions and our case, we were able to narrow the critical region of Nablus syndrome to 0.5\u2009Mb. The deleted region includes FAM92A1, which seems to be a potential candidate gene in NMLFS. \u00a9 2012 Wiley Periodicals, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.35614","type":"journal-article","created":{"date-parts":[[2012,12,14]],"date-time":"2012-12-14T05:08:10Z","timestamp":1355461690000},"page":"162-165","source":"Crossref","is-referenced-by-count":10,"title":["A new case of 8q22.1 microdeletion restricts the critical region for Nablus mask\u2010like facial syndrome"],"prefix":"10.1002","volume":"161","author":[{"given":"Anne","family":"Debost\u2010Legrand","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eleonore","family":"Eymard\u2010Pierre","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C\u00e9line","family":"Pebrel\u2010Richard","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Laetitia","family":"Gouas","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Carole","family":"Goumy","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michel","family":"Giollant","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wiem","family":"Ayed","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andre\u00ef","family":"Tchirkov","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Christine","family":"Francannet","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Philippe","family":"Vago","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2012,12,13]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2009.12.006"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa0911698"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.canlet.2008.10.043"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2009.03.011"},{"key":"e_1_2_8_6_1","doi-asserted-by":"crossref","first-page":"391","DOI":"10.1016\/S1016-8478(23)10730-8","article-title":"Identification and characterization of two novel variants of the DUF1208 protein FAM92A1","volume":"23","author":"Ruan XZ","year":"2007","journal-title":"Mol Cells"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.20280"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31262"},{"key":"e_1_2_8_9_1","first-page":"10","article-title":"Cocoon fetus\u2010fetal encasement secondary to ectodermal dysplasia","author":"Stevenson R","year":"1987","journal-title":"Proc Greenwood Genet Center"}],"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.35614","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.35614","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,5,3]],"date-time":"2024-05-03T09:41:36Z","timestamp":1714729296000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.35614"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012,12,13]]},"references-count":8,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2013,1]]}},"alternative-id":["10.1002\/ajmg.a.35614"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.35614","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2012,12,13]]}}}