{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,21]],"date-time":"2026-02-21T09:46:52Z","timestamp":1771667212206,"version":"3.50.1"},"reference-count":13,"publisher":"Wiley","issue":"14","license":[{"start":{"date-parts":[[2006,6,7]],"date-time":"2006-06-07T00:00:00Z","timestamp":1149638400000},"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":[[2006,7,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Genitopatellar syndrome is a newly described disorder characterized by absent\/hypoplastic patellae, lower extremity contractures, urogenital anomalies, dysmorphic features, skeletal anomalies, and agenesis of the corpus callosum. More recently, cardiac anomalies and ectodermal dysplasia have been suggested as additional features of this syndrome. We report on two additional patients with genitopatellar syndrome and expand the spectrum of anomalies to include radio\u2010ulnar synostosis. Since there exists significant overlap in the skeletal phenotype between genitopatellar syndrome and both the nail\u2010patella and short patella syndromes, mutation screening of their causative genes, <jats:italic>LMX1B<\/jats:italic> and <jats:italic>TBX4<\/jats:italic>, was performed. Although there still does not appear to be an identifiable molecular etiology in genitopatellar syndrome, mutations in these two candidate genes have been excluded in our patients. Since both <jats:italic>LMX1B<\/jats:italic> and <jats:italic>TBX4<\/jats:italic> are involved in a common molecular pathway, it is likely that the causative gene of genitopatellar syndrome functions within the same developmental process. \u00a9 2006 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.31258","type":"journal-article","created":{"date-parts":[[2006,6,7]],"date-time":"2006-06-07T20:32:01Z","timestamp":1149712321000},"page":"1567-1572","source":"Crossref","is-referenced-by-count":15,"title":["Genitopatellar syndrome: Expanding the phenotype and excluding mutations in <i>LMX1B<\/i> and <i>TBX4<\/i>"],"prefix":"10.1002","volume":"140A","author":[{"given":"Omar A.","family":"Abdul\u2010Rahman","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Trang H.","family":"La","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andrea","family":"Kwan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Silke","family":"Schlaubitz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Greg S.","family":"Barsh","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gregory M.","family":"Enns","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Louanne","family":"Hudgins","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2006,6,7]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.39.12.933"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1086\/421331"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2005.00508.x"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.37.7.520"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0598-47"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ar.a.20022"},{"key":"e_1_2_5_8_1","first-page":"91","article-title":"A syndrome of hypoplastic patellae, mental retardation, skeletal and genitourinary anomalies with normal chromosomes","volume":"2","author":"Goldblatt J","year":"1988","journal-title":"Dysmorph Clin Genet"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.10582"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00364781"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.20268"},{"key":"e_1_2_5_12_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.283.5408.1736"},{"key":"e_1_2_5_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.10590"},{"key":"e_1_2_5_14_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.40.3.153"}],"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.31258","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.31258","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,10]],"date-time":"2023-10-10T20:13:31Z","timestamp":1696968811000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.31258"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2006,6,7]]},"references-count":13,"journal-issue":{"issue":"14","published-print":{"date-parts":[[2006,7,15]]}},"alternative-id":["10.1002\/ajmg.a.31258"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.31258","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2006,6,7]]}}}