{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T06:07:22Z","timestamp":1761718042031},"reference-count":15,"publisher":"Wiley","issue":"19","license":[{"start":{"date-parts":[[2007,8,31]],"date-time":"2007-08-31T00:00:00Z","timestamp":1188518400000},"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":[[2007,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We report on six cases from four families with the newly described skeletal disorder diaphanospondylodysostosis (DSD). The characteristic radiographic findings included abnormal ossification of vertebral bodies, posterior rib gaps, missing ribs, and a downward tilt of the pubic rami, but normal long bones. The typical facial features of DSD cases were ocular hypertelorism, a short nose, depressed nasal bridge, and low set ears. Other distinctive findings included a short neck with bell\u2010shaped thorax, and nephroblastomatosis. A history of consanguinity and affected siblings with unaffected parents supports autosomal recessive inheritance. Skeletal histology showed incomplete ossification of the ribs, vertebral bodies, and sacrum as well as incomplete formation of intervertebral discs. The posterior ribs were comprised of bone with intervening cartilage interrupted by dense fibrous tissue and skeletal muscle fascicles. These findings suggest abnormal development and differentiation of the paraxial mesoderm. Because of phenotypic similarities of DSD to <jats:italic>Pax1<\/jats:italic> and <jats:italic>Meox1<\/jats:italic> deficient mice, we sequenced genomic DNA from three unrelated DSD cases. No mutations were identified in the <jats:italic>PAX1<\/jats:italic> and <jats:italic>MEOX1<\/jats:italic> exons or flanking intronic sequences, excluding them as likely causative genes. \u00a9 2007 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.31934","type":"journal-article","created":{"date-parts":[[2007,8,31]],"date-time":"2007-08-31T17:47:21Z","timestamp":1188582441000},"page":"2292-2302","source":"Crossref","is-referenced-by-count":16,"title":["Diaphanospondylodysostosis: Six new cases and exclusion of the candidate genes, <i>PAX1<\/i> and <i>MEOX1<\/i>"],"prefix":"10.1002","volume":"143A","author":[{"given":"Nithiwat","family":"Vatanavicharn","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"suffix":"Jr","given":"John M.","family":"Graham","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cynthia J.","family":"Curry","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Samuel","family":"Pepkowitz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ralph S.","family":"Lachman","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"David L.","family":"Rimoin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"William R.","family":"Wilcox","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2007,8,31]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/74307"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30537"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1097\/00125480-200109000-00005"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1242\/dev.00687"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19960202)61:4<310::AID-AJMG3>3.0.CO;2-Y"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1097\/00019605-199907000-00003"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1242\/dev.126.23.5399"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.20097"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1128\/MCB.24.7.2757-2766.2004"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1086\/498879"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1097\/00019605-200101000-00004"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.10401"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0014-5793(01)02556-X"},{"key":"e_1_2_7_15_1","doi-asserted-by":"publisher","DOI":"10.1086\/421053"},{"key":"e_1_2_7_16_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.95.15.8692"}],"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.31934","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.31934","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,18]],"date-time":"2023-10-18T01:38:29Z","timestamp":1697593109000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.31934"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2007,8,31]]},"references-count":15,"journal-issue":{"issue":"19","published-print":{"date-parts":[[2007,10]]}},"alternative-id":["10.1002\/ajmg.a.31934"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.31934","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2007,8,31]]}}}