{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,4,27]],"date-time":"2024-04-27T11:51:43Z","timestamp":1714218703163},"reference-count":10,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2012,11,19]],"date-time":"2012-11-19T00:00:00Z","timestamp":1353283200000},"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":[[2012,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We report on two brothers (born to nonconsanguineous parents) with short stature, hypospadias, scoliosis, vertebral segmentation defects of \u201cspondylocostal dysostosis\u201d type, and intellectual disability. Results of cytogenetic and molecular genetic tests performed, including routine karyotype, MLPA (multiplex ligation\u2010dependent probe amplification) for common microdeletions and subtelomeric copy number variants, microarray\u2010CGH analysis, and sequencing of four Notch signaling pathway genes (<jats:italic>DLL3<\/jats:italic>, <jats:italic>MESP2<\/jats:italic>, <jats:italic>LFNG<\/jats:italic>, and <jats:italic>HES7<\/jats:italic>), were all normal. We present a comparison of the condition in the two boys with known syndromes and suggest that they may represent a hitherto unreported syndrome, most likely following autosomal recessive inheritance, though X\u2010linked inheritance is not excluded. \u00a9 2012 Wiley Periodicals, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.35607","type":"journal-article","created":{"date-parts":[[2012,11,20]],"date-time":"2012-11-20T05:07:07Z","timestamp":1353388027000},"page":"3065-3070","source":"Crossref","is-referenced-by-count":1,"title":["Brothers with hypospadias, vertebral segmentation defects, and intellectual disability: New syndrome?"],"prefix":"10.1002","volume":"158A","author":[{"given":"Shubha R.","family":"Phadke","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Prajnya","family":"Ranganath","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vijay Raju","family":"Boggula","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Divya","family":"Gupta","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rajendra V.","family":"Phadke","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Melissa","family":"Sloman","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Peter D.","family":"Turnpenny","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2012,11,19]]},"reference":[{"key":"e_1_2_4_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320080114"},{"key":"e_1_2_4_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2008.04.014"},{"key":"e_1_2_4_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5201639"},{"key":"e_1_2_4_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320550309"},{"key":"e_1_2_4_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19990827)85:5<470::AID-AJMG7>3.0.CO;2-S"},{"key":"e_1_2_4_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33361"},{"key":"e_1_2_4_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320460508"},{"key":"e_1_2_4_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/dvdy.21182"},{"key":"e_1_2_4_10_1","first-page":"1993","volume-title":"Gene reviews [Internet]","author":"Turnpenny PD","year":"2010"},{"key":"e_1_2_4_11_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.25.5.344"}],"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.35607","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.35607","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,18]],"date-time":"2023-10-18T12:45:33Z","timestamp":1697633133000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.35607"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012,11,19]]},"references-count":10,"journal-issue":{"issue":"12","published-print":{"date-parts":[[2012,12]]}},"alternative-id":["10.1002\/ajmg.a.35607"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.35607","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2012,11,19]]}}}