{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,24]],"date-time":"2025-12-24T23:09:05Z","timestamp":1766617745696},"reference-count":9,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2004,4,21]],"date-time":"2004-04-21T00:00:00Z","timestamp":1082505600000},"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":[[2004,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Desbuquois dysplasia is a rare chondrodysplasia of autosomal recessive inheritance characterized by short stature, joint laxity, facial anomalies, a \u201cSwedish key\u201d appearance of the proximal femur, and advanced carpal and tarsal bone age. Patients with Desbuquois dysplasia can be divided in two groups, depending on whether hand changes include an extra ossification center distal to the second metacarpal and whether phalangeal dislocations are present or absent. We have recently reported linkage of a Desbuquois dysplasia gene to 17q25.3 in a group of patients with typical hand abnormalities. Here, we report on the exclusion of the 17q25.3 locus in three inbred Desbuquois families originated from Turkey, Asia, and Morocco without typical hand abnormalities. Microsatellite DNA markers from the 17q25.3 region were used at an average spacing of 2 cM, and the three affected individuals from families 1 to 3 were heterozygous for the 17q25.3 region. These results allow us to exclude this region as the locus in Desbuquois families with no hand anomalies and demonstrate genetic heterogeneity. Ongoing studies will hopefully lead to the identification of the responsible genes. \u00a9 2004 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.30042","type":"journal-article","created":{"date-parts":[[2004,4,21]],"date-time":"2004-04-21T22:00:57Z","timestamp":1082584857000},"page":"29-32","source":"Crossref","is-referenced-by-count":24,"title":["Clinical and genetic heterogeneity in Desbuquois dysplasia"],"prefix":"10.1002","volume":"128A","author":[{"given":"Laurence","family":"Faivre","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Martine","family":"Le Merrer","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Klaus","family":"Zerres","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mongi Ben","family":"Hariz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"D\u00e9borah","family":"Scheffer","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ian D.","family":"Young","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pierre","family":"Maroteaux","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Arnold","family":"Munnich","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Val\u00e9rie","family":"Cormier\u2010Daire","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2004,4,21]]},"reference":[{"key":"e_1_2_5_2_1","first-page":"573","article-title":"Nanisme chondrodystrophique avec ossification anarchique et polymalformations chez deux s\u0153urs","volume":"23","author":"Desbuquois G","year":"1966","journal-title":"Arch Fr Pediatr"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.40.4.282"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.20440"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1097\/00019605-199504000-00005"},{"key":"e_1_2_5_6_1","unstructured":"Human Genome Working Draft.http:\/\/genome.ucsc.edu\/."},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.2884728"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF02026714"},{"key":"e_1_2_5_9_1","first-page":"541","article-title":"Dysplasie osseuse avec nanisme et alt\u00e9rations squelettiques diffuses. Six observations","volume":"32","author":"Puissan C","year":"1975","journal-title":"Arch Fr Pediatr"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320520104"}],"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.30042","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.30042","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,18]],"date-time":"2023-10-18T15:12:52Z","timestamp":1697641972000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.30042"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2004,4,21]]},"references-count":9,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2004,7]]}},"alternative-id":["10.1002\/ajmg.a.30042"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.30042","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2004,4,21]]}}}