{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,25]],"date-time":"2026-07-25T00:14:56Z","timestamp":1784938496646,"version":"3.55.0"},"reference-count":17,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2001,10,26]],"date-time":"2001-10-26T00:00:00Z","timestamp":1004054400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[2002,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We report on an Italian boy with the Meier\u2010Gorlin syndrome (ear\u2013patella\u2013short stature syndrome). This rare autosomal recessive disorder comprises the triad of microtia, absent patellae, and growth retardation with prenatal onset. The patient had also an acute torsion of his left spermatic cord, a condition related to a congenital defect of the tunica vaginalis. Because this syndrome had been suggested as the human equivalent of the <jats:italic>short ear<\/jats:italic> mouse [Lacombe et al., <jats:ext-link xmlns:xlink=\"http:\/\/www.w3.org\/1999\/xlink\" xlink:href=\"#bib11\">1994<\/jats:ext-link>: Ann. Genet. 37:184\u2013191], a mutation analysis of the <jats:italic>BMP5<\/jats:italic> gene was performed and found normal. The <jats:italic>LMX1B<\/jats:italic> and the <jats:italic>SHOX<\/jats:italic> genes were also evaluated considering the absent patellae and short stature, respectively, and were found normal as well. \u00a9 2001 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.10083","type":"journal-article","created":{"date-parts":[[2002,8,25]],"date-time":"2002-08-25T16:35:44Z","timestamp":1030293344000},"page":"48-51","source":"Crossref","is-referenced-by-count":16,"title":["Meier\u2010Gorlin syndrome (ear\u2013patella\u2013short stature syndrome) in an Italian patient: Clinical evaluation and analysis of possible candidate genes"],"prefix":"10.1002","volume":"107","author":[{"given":"Amnon","family":"Cohen","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roberta","family":"Mulas","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marco","family":"Seri","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alberto","family":"Gaiero","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Graziella","family":"Fichera","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Monica","family":"Marini","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria","family":"Baffico","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gianni","family":"Camera","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2001,10,26]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0198-67"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1097\/00019605-199407000-00004"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1452"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19960823)64:3<447::AID-AJMG1>3.0.CO;2-M"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.28.11.786"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/380152a0"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(95)90487-5"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1097\/00019605-199807000-00016"},{"key":"e_1_2_7_10_1","first-page":"39","article-title":"A selected miscellany","volume":"11","author":"Gorlin RJ","year":"1975","journal-title":"Birth Defects"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320290113"},{"key":"e_1_2_7_12_1","first-page":"184","article-title":"Clinical identification of a human equivalent to the SHORT EAR (se) mouse","volume":"37","author":"Lacombe D","year":"1994","journal-title":"Ann Genet"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19990507)84:1<61::AID-AJMG12>3.0.CO;2-6"},{"key":"e_1_2_7_14_1","first-page":"213","article-title":"Ein Fall von Arthrogryposis multiplex congenita kombiniert mit Dysostosis mandibulofacialis (Franceschetti\u2010Syndrom)","volume":"14","author":"Meier Z","year":"1959","journal-title":"Helv Paediatr Acta"},{"key":"e_1_2_7_15_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0597-54"},{"key":"e_1_2_7_16_1","first-page":"285","article-title":"Identification of LMX1B gene point mutations in Italian patients affected with nail\u2010patella syndrome","volume":"4","author":"Seri M","year":"1999","journal-title":"Int J Mol Med"},{"key":"e_1_2_7_17_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0198-70"},{"key":"e_1_2_7_18_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.37.9.719"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.10083","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.10083","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,11,19]],"date-time":"2023-11-19T12:10:33Z","timestamp":1700395833000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.10083"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2001,10,26]]},"references-count":17,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2002,1]]}},"alternative-id":["10.1002\/ajmg.10083"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.10083","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[2001,10,26]]}}}