{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T22:28:00Z","timestamp":1791325680062,"version":"4.3.1"},"reference-count":14,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2011,4,7]],"date-time":"2011-04-07T00:00:00Z","timestamp":1302134400000},"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":[[2011,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We report on the first cases of<jats:italic>FGF3<\/jats:italic>compound heterozygotes in two European families from non\u2010consanguineous marriages, affected with labyrinthine aplasia, microtia, and microdontia (LAMM) Syndrome. Three not previously described mutations (p.W153VfsX51, p.Y106C, and p.Y49C) and a recurrent one (p.R104X) were found. Analysis of 50 unrelated control subjects (100 chromosomes) of the same European background did not show any of the two newly reported missense variations. We confirm the absence of otodental syndrome in heterozygous carriers, but report unilateral microtia in one of them. We also report on the involvement of the middle ear structures in LAMM Syndrome. \u00a9 2011 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.33962","type":"journal-article","created":{"date-parts":[[2011,4,7]],"date-time":"2011-04-07T20:23:44Z","timestamp":1302207824000},"page":"1096-1101","source":"Crossref","is-referenced-by-count":29,"title":["LAMM syndrome with middle ear dysplasia associated with compound heterozygosity for FGF3 mutations"],"prefix":"10.1002","volume":"155","author":[{"given":"Alberto","family":"Sensi","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stefano","family":"Ceruti","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patrizia","family":"Trevisi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francesca","family":"Gualandi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Micol","family":"Busi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ilaria","family":"Donati","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marcella","family":"Neri","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alessandra","family":"Ferlini","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alessandro","family":"Martini","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2011,4,7]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2008.141"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddm204"},{"key":"e_1_2_7_4_1","first-page":"155","article-title":"Michel's anomaly, type I microtia and microdontia","volume":"70","author":"Hersh JH","year":"1991","journal-title":"Ear Nose Throat J"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/dvdy.21388"},{"key":"e_1_2_7_6_1","first-page":"115","article-title":"Otodental dysplasia","volume":"11","author":"Jorgenson RJ","year":"1975","journal-title":"Birth Defects Orig Artic Ser"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1126\/scisignal.3146re9"},{"key":"e_1_2_7_8_1","first-page":"125","article-title":"Morphogenetic variants in parents of children with recessive malformation syndromes","volume":"58","author":"M\u00e9hes K","year":"1990","journal-title":"Kinderarztl Prax"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.3174\/ajnr.A1426"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0092-8674(00)80051-3"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/lary.20689"},{"key":"e_1_2_7_12_1","doi-asserted-by":"crossref","first-page":"8","DOI":"10.1093\/oso\/9780195138498.003.0003","volume-title":"Hereditary hearing loss and its syndromes","author":"Reardon W","year":"2004"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1038\/353561a0"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1086\/510920"},{"key":"e_1_2_7_15_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2008.01004.x"}],"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.33962","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.33962","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.33962","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,4,5]],"date-time":"2024-04-05T23:15:46Z","timestamp":1712358946000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.33962"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2011,4,7]]},"references-count":14,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2011,5]]}},"alternative-id":["10.1002\/ajmg.a.33962"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.33962","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2011,4,7]]}}}