{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,10,12]],"date-time":"2023-10-12T05:19:23Z","timestamp":1697087963207},"reference-count":23,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2010,11,12]],"date-time":"2010-11-12T00:00:00Z","timestamp":1289520000000},"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":[[2010,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We report on a three\u2010generation family affected with an osteochondrodysplasia transmitted as an autosomal dominant trait. The phenotype consists of short humerus, curved radius with accessory ossification centre at the proximal third of ulna, variable short stature and brachydactyly, and has not been reported to the best of our knowledge. The brachydactyly falls into the brachydactyly A1 category (especially short 2nd, 4th, and 5th middle phalanges). A unique feature in one family member is triphalangeal thumbs. Vertebrae are normal. Mental development is normal and deafness is seen in some of the family members. A mutation was excluded by sequencing the entire coding regions of the <jats:italic>IHH<\/jats:italic> gene encoding the Indian Hedgehog protein and the <jats:italic>GDF5<\/jats:italic> gene. This condition is a novel chondrodyplasia phenotype or possibly one end of the spectrum of the brachydactyly A1. \u00a9 2010 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.33761","type":"journal-article","created":{"date-parts":[[2010,11,12]],"date-time":"2010-11-12T19:21:30Z","timestamp":1289589690000},"page":"3016-3021","source":"Crossref","is-referenced-by-count":3,"title":["Brachydactyly type A1 with short humerus and associated skeletal features"],"prefix":"10.1002","volume":"152A","author":[{"given":"Didier","family":"Lacombe","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marie\u2010Ange","family":"Delrue","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Caroline","family":"Rooryck","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fanny","family":"Morice\u2010Picard","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Beno\u00eet","family":"Arveiler","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Brigitte","family":"Maugey\u2010Laulom","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Stefan","family":"Mundlos","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Annick","family":"Toutain","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jean\u2010Fran\u00e7ois","family":"Chateil","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2010,11,12]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.39.3.186"},{"key":"e_1_2_6_3_1","first-page":"1","volume-title":"Treasury of human inheritance","author":"Bell J","year":"1951"},{"key":"e_1_2_6_4_1","unstructured":"BulmanDE RacachoL ByrnesAM DranseH UnderhillTM AllansonJ NikkelSM.2009.Mutations in GDF5 and its receptor BMPR1B cause Brachydactyly type A1. 59th Annual Meeting ASHG Honolulu Hawaii USA."},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2009.18"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF02981724"},{"key":"e_1_2_6_7_1","unstructured":"FarabeeWC.1903.Hereditary and sexual influence in meristic variation: A study of digital malformations in man. 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