{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,24]],"date-time":"2026-02-24T03:41:16Z","timestamp":1771904476072,"version":"3.50.1"},"reference-count":40,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2003,5,13]],"date-time":"2003-05-13T00:00:00Z","timestamp":1052784000000},"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":[[2003,7,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We report two consecutive Caucasian male siblings of nonconsanguineous parents autopsied at 22 and 13 weeks gestational age both with prenatal diagnosis of Jarcho\u2010Levin syndrome (JLS). Segmentation anomalies of the vertebrae and ribs encompass a spectrum of syndromes with or without associated anomalies of other developmental fields, and include spondylothoracic dysostosis (STD), JLS, Casamassima\u2010Morton\u2010Nance (CMN) syndrome, and spondylocostal dysostosis (SCD), among others. In both these new JLS cases the autopsies confirmed that there were severe developmental alterations in the thoracic and vertebral skeleton (including \u201ccrab\u2010like\u201d thorax), accompanied in the older fetus by renal defects. Because vertebral development is controlled by a limited number of master genes including <jats:italic>Pax1<\/jats:italic> and <jats:italic>Pax9<\/jats:italic>, we analyzed protein expression from these genes in these two cases compared to age\u2010matched controls. Immunochemical analysis showed a significant reduction in levels of Pax1 and Pax9 protein expression in chondrocytes of the vertebral column. Implications for the etiology and pathogenesis of JLS and related disorders are discussed. \u00a9 2003 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.20192","type":"journal-article","created":{"date-parts":[[2003,6,24]],"date-time":"2003-06-24T10:15:25Z","timestamp":1056449725000},"page":"241-246","source":"Crossref","is-referenced-by-count":40,"title":["Aberrant <i>Pax1<\/i> and <i>Pax9<\/i> expression in Jarcho\u2010Levin syndrome: Report of two Caucasian siblings and literature review"],"prefix":"10.1002","volume":"120A","author":[{"given":"Sergei I.","family":"Bannykh","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shawn Clark","family":"Emery","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Josef\u2010Karl","family":"Gerber","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kenneth L.","family":"Jones","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kurt","family":"Benirschke","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eliezer","family":"Masliah","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2003,5,13]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1097\/00019605-199604000-00009"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1097\/00007611-199712000-00014"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/74307"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(88)90577-6"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1159\/000028810"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1469-0705.1997.09050314.x"},{"issue":"7","key":"e_1_2_5_8_1","first-page":"134","article-title":"Jarcho\u2010Levin syndrome: A new case report with unusual unexplained aortic root dilatation","volume":"89","author":"Galguera MA","year":"1997","journal-title":"Bol Asoc Med P R"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.28.1.51"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1097\/00007632-198805000-00007"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.33.8.655"},{"key":"e_1_2_5_12_1","doi-asserted-by":"publisher","DOI":"10.1038\/35057062"},{"key":"e_1_2_5_13_1","first-page":"216","article-title":"Hereditary malformation of the vertebral bodies","volume":"62","author":"Jarcho S","year":"1938","journal-title":"Bull Johns Hopkins Hosp"},{"key":"e_1_2_5_14_1","first-page":"598","volume-title":"Smith's recognizable patterns of human malformation","author":"Jones KL","year":"1997"},{"key":"e_1_2_5_15_1","first-page":"407","article-title":"Jarcho\u2010Levin syndrome: Prenatal diagnosis, perinatal care, and follow\u2010up of siblings","volume":"17","author":"Lawson ME","year":"1997","journal-title":"J Perinatol"},{"key":"e_1_2_5_16_1","doi-asserted-by":"publisher","DOI":"10.1242\/dev.127.11.2251"},{"key":"e_1_2_5_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320490110"},{"key":"e_1_2_5_18_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19961202)66:1<91::AID-AJMG24>3.0.CO;2-K"},{"key":"e_1_2_5_19_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320490109"},{"key":"e_1_2_5_20_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320510306"},{"key":"e_1_2_5_21_1","first-page":"510","article-title":"Jarcho\u2010Levin and Casamassima syndromes: Differential diagnosis and frequency in Spain","volume":"48","author":"Martinez\u2010Frias ML","year":"1998","journal-title":"An Esp Pediatr"},{"key":"e_1_2_5_22_1","first-page":"235","article-title":"Cortical and subcortical patterns of synaptophysin\u2010like immunoreactivity in Alzheimer disease","volume":"138","author":"Masliah E","year":"1991","journal-title":"Am J Pathol"},{"key":"e_1_2_5_23_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_5_24_1","doi-asserted-by":"publisher","DOI":"10.3346\/jkms.1993.8.6.471"},{"key":"e_1_2_5_25_1","doi-asserted-by":"publisher","DOI":"10.1002\/aja.1002030102"},{"key":"e_1_2_5_26_1","doi-asserted-by":"publisher","DOI":"10.1101\/gad.12.17.2735"},{"key":"e_1_2_5_27_1","doi-asserted-by":"publisher","DOI":"10.1242\/dev.126.23.5399"},{"key":"e_1_2_5_28_1","doi-asserted-by":"publisher","DOI":"10.1177\/088307388900400109"},{"key":"e_1_2_5_29_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1991.tb03023.x"},{"key":"e_1_2_5_30_1","doi-asserted-by":"publisher","DOI":"10.1007\/s003350010267"},{"key":"e_1_2_5_31_1","first-page":"233","article-title":"De novo deletion (14)(q11.2q13) including PAX9: Clinical and molecular findings","volume":"36","author":"Schuffenhauer S","year":"1999","journal-title":"J Med Genet"},{"key":"e_1_2_5_32_1","first-page":"451","article-title":"Jarcho\u2010Levin syndrome. Description of a clinical case with familial 14;21 translocation","volume":"46","author":"Sellitto F","year":"1994","journal-title":"Minerva Pediatr"},{"key":"e_1_2_5_33_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-2008-1072387"},{"key":"e_1_2_5_34_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1540-8191.1997.tb00123.x"},{"key":"e_1_2_5_35_1","doi-asserted-by":"publisher","DOI":"10.1038\/71634"},{"key":"e_1_2_5_36_1","doi-asserted-by":"publisher","DOI":"10.1016\/0959-437X(94)90032-9"},{"key":"e_1_2_5_37_1","doi-asserted-by":"publisher","DOI":"10.1007\/978-3-642-73775-6_1"},{"key":"e_1_2_5_38_1","doi-asserted-by":"publisher","DOI":"10.1242\/dev.120.5.1109"},{"key":"e_1_2_5_39_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.95.15.8692"},{"key":"e_1_2_5_40_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1469-0705.1998.12010070.x"},{"key":"e_1_2_5_41_1","doi-asserted-by":"publisher","DOI":"10.1177\/088307388900400318"}],"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.20192","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.20192","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,11,16]],"date-time":"2023-11-16T18:46:40Z","timestamp":1700160400000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.20192"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2003,5,13]]},"references-count":40,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2003,7,15]]}},"alternative-id":["10.1002\/ajmg.a.20192"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.20192","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2003,5,13]]}}}