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We report on a 20\u2010month\u2010old child with complex brachydactyly and mild proximal fibular hypoplasia, consistent with DPC, in the absence of other anomalies of long bones and joints. Mutational analysis disclosed two novel <jats:italic>GDF5<\/jats:italic> mutations within the protein's mature domain and in the cleavage site of the prodomain which explains the distinct DPC phenotype found in this patient. The unaffected mother and the father who presented with mild brachybaso\/mesophalangy of all digits were both heterozygous carriers. \u00a9 2008 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.32435","type":"journal-article","created":{"date-parts":[[2008,7,15]],"date-time":"2008-07-15T18:56:43Z","timestamp":1216148203000},"page":"2116-2121","source":"Crossref","is-referenced-by-count":18,"title":["Compound heterozygosity for GDF5 in Du Pan type chondrodysplasia"],"prefix":"10.1002","volume":"146A","author":[{"given":"Sofia","family":"Douzgou","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Katarina","family":"Lehmann","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rita","family":"Mingarelli","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Stefan","family":"Mundlos","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bruno","family":"Dallapiccola","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2008,7,15]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320360309"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.37.4.292"},{"key":"e_1_2_7_4_1","first-page":"1","volume-title":"The treasury of human inheritance","author":"Bell J","year":"1951"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19990507)84:1<68::AID-AJMG13>3.0.CO;2-J"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19980217)75:5<523::AID-AJMG13>3.0.CO;2-M"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1086\/503204"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2004.023564"},{"key":"e_1_2_7_9_1","first-page":"227","article-title":"Absence cong\u00e9nitale du perone sans deformation du tibia: Curieuses deformations cong\u00e9nitales des mains","volume":"11","author":"Du Pan CM","year":"1924","journal-title":"Rev Orthop"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.10777"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1034\/j.1399-0004.2002.610610.x"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1242\/dev.126.6.1305"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00284447"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2005.034058"},{"key":"e_1_2_7_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320340416"},{"key":"e_1_2_7_16_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00283684"},{"key":"e_1_2_7_17_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.2133476100"},{"key":"e_1_2_7_18_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5201708"},{"key":"e_1_2_7_19_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddn012"},{"key":"e_1_2_7_20_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00256-001-0461-0"},{"key":"e_1_2_7_21_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.20349"},{"key":"e_1_2_7_22_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI25118"},{"key":"e_1_2_7_23_1","doi-asserted-by":"publisher","DOI":"10.1038\/368639a0"},{"key":"e_1_2_7_24_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30969"},{"key":"e_1_2_7_25_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0997-58"}],"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.32435","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.32435","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,18]],"date-time":"2023-10-18T07:54:38Z","timestamp":1697615678000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.32435"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2008,7,15]]},"references-count":24,"journal-issue":{"issue":"16","published-print":{"date-parts":[[2008,8,15]]}},"alternative-id":["10.1002\/ajmg.a.32435"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.32435","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2008,7,15]]}}}