{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,8]],"date-time":"2026-09-08T12:27:29Z","timestamp":1788870449990,"version":"build-2803163510"},"reference-count":27,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2015,3,28]],"date-time":"2015-03-28T00:00:00Z","timestamp":1427500800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"College of Medicine Research Center, Deanship of Scientific Research, King Saud University"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2015,7]]},"abstract":"<jats:sec>\n                    <jats:label\/>\n                    <jats:p>\n                      Mutations of the\n                      <jats:italic>GDF5<\/jats:italic>\n                      gene cause a variable phenotype including brachydactyly type C. A review of the literature showed that it is caused either by heterozygous frameshift mutations within the prodomain or heterozygous missense\/nonsense mutations within the active domain. Only a single patient with a homozygous mutation (c.517A\u2009&gt;\u2009G, which predicts p. Met173Val) has been reported in this disorder. In this paper, we report two children with novel homozygous missense mutations in the\n                      <jats:italic>GDF5<\/jats:italic>\n                      gene associated with brachydactyly type C: one mutation was within the region coding for the prodomain (c.608C\u2009&gt;\u2009A, which predicts p.Thr203Asn) and the other was within the region coding for the active domain (c.1456 G\u2009&gt;\u2009A, which predicts p.Val486Met). The genotype\u2013phenotype correlations in the mutational spectrum of the\n                      <jats:italic>GDF5<\/jats:italic>\n                      gene are discussed. \u00a9 2015 Wiley Periodicals, Inc.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/ajmg.a.37040","type":"journal-article","created":{"date-parts":[[2015,3,29]],"date-time":"2015-03-29T01:57:50Z","timestamp":1427594270000},"page":"1621-1626","source":"Crossref","is-referenced-by-count":11,"title":["Two novel homozygous missense mutations in the\n                    <i>GDF5<\/i>\n                    gene cause brachydactyly type C"],"prefix":"10.1002","volume":"167","author":[{"given":"Mohammad M.","family":"Al\u2010Qattan","sequence":"first","affiliation":[{"name":"Department of Surgery King Saud University Riyadh Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Muhammed I.","family":"Al\u2010Motairi","sequence":"additional","affiliation":[{"name":"Department of Surgery King Saud University Riyadh Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mohammed A.","family":"Al Balwi","sequence":"additional","affiliation":[{"name":"Department of Pathology and Laboratory Medicine King Abdulaziz Medical City Riyadh Saudi Arabia"},{"name":"King Abdullah International Medical Research Center Molecular Biology King Abdulaziz Medical City Riyadh Saudi Arabia"},{"name":"King Saud Bin Abdulaziz University for Health Sciences College of Medicine Riyadh Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2015,3,28]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1177\/1753193413514363"},{"key":"e_1_2_7_3_1","first-page":"17","article-title":"Identification de una nueva mutacion en el gen CDMP1 causante de la braquidactilia tipo C en una familia 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