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Twelve patients with ages from 15 days to 12 years and two affected fetuses have been reported. We describe a 17\u2010year\u2010old female with a phenotype consistent with GPS. Being the oldest reported patient, she is the first one showing severe symptomatic osteoporosis and endocrine abnormalities including primary hypothyroidism and delayed puberty. We suggest that these novel findings are also manifestations of GPS. \u00a9 2009 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.32644","type":"journal-article","created":{"date-parts":[[2009,2,10]],"date-time":"2009-02-10T18:58:46Z","timestamp":1234292326000},"page":"451-455","source":"Crossref","is-referenced-by-count":20,"title":["Genitopatellar syndrome in an adolescent female with severe osteoporosis and endocrine abnormalities"],"prefix":"10.1002","volume":"149A","author":[{"given":"Maila","family":"Penttinen","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hannele","family":"Koillinen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Harri","family":"Niinikoski","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Outi","family":"M\u00e4kitie","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marja","family":"Hietala","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2009,2,10]]},"reference":[{"key":"e_1_2_4_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31258"},{"key":"e_1_2_4_3_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.39.12.933"},{"key":"e_1_2_4_4_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2005.00508.x"},{"key":"e_1_2_4_5_1","doi-asserted-by":"publisher","DOI":"10.1352\/0895-8017(1998)103<0019:PWMRHA>2.0.CO;2"},{"key":"e_1_2_4_6_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.37.7.520"},{"key":"e_1_2_4_7_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":"Dysmorphol Clin Genet"},{"key":"e_1_2_4_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30231"},{"key":"e_1_2_4_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.10582"},{"key":"e_1_2_4_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.20268"},{"key":"e_1_2_4_11_1","doi-asserted-by":"publisher","DOI":"10.1136\/bmj.309.6949.265"},{"key":"e_1_2_4_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.10590"},{"key":"e_1_2_4_13_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.23.4.355"},{"key":"e_1_2_4_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31685"},{"key":"e_1_2_4_15_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.28.2.140"},{"key":"e_1_2_4_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.yebeh.2003.11.025"},{"key":"e_1_2_4_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.10067"},{"key":"e_1_2_4_18_1","doi-asserted-by":"publisher","DOI":"10.1080\/07853890510007250"}],"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.32644","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.32644","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,18]],"date-time":"2023-10-18T04:01:03Z","timestamp":1697601663000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.32644"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2009,2,10]]},"references-count":17,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2009,3]]}},"alternative-id":["10.1002\/ajmg.a.32644"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.32644","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2009,2,10]]}}}