{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,15]],"date-time":"2026-10-15T12:29:33Z","timestamp":1792067373903,"version":"4.4.0"},"reference-count":27,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2013,5,17]],"date-time":"2013-05-17T00:00:00Z","timestamp":1368748800000},"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":[[2013,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:label\/><jats:p>Urorectal septum malformation sequence (URSM) is a pattern of malformation which encompasses abnormalities of the perineal orifices, external genitalia, genitourinary system, and anorectum. The spectrum ranges from a complete form with absence of perineal openings and persistent cloaca to milder\/partial forms usually with one perineal opening and internal abnormalities of anorectum, urethra, and M\u00fcllerian structures. URSM is felt to arise due to abnormalities of the caudal mesoderm, which constitutes the urorectal septum. Here, we report two male siblings, affected with a spectrum of anomalies simulating URSM. This is the first report of recurrence of URSM in sibs. It suggests the existence of hitherto unknown genetic mechanisms for this pattern of malformation. \u00a9 2013 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.35950","type":"journal-article","created":{"date-parts":[[2013,5,17]],"date-time":"2013-05-17T20:05:24Z","timestamp":1368821124000},"page":"1718-1721","source":"Crossref","is-referenced-by-count":15,"title":["Recurrence of urorectal septum malformation sequence spectrum anomalies in siblings: Time to explore the genetics"],"prefix":"10.1002","volume":"161","author":[{"given":"Shagun","family":"Aggarwal","sequence":"first","affiliation":[{"name":"Department of Medical Genetics Nizam's Institute of Medical Sciences Hyderabad India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shubha R.","family":"Phadke","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Sanjay Gandhi Postgraduate Institute of Medical Sciences Lucknow India"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2013,5,17]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1469-0705.2000.00233.x"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1086\/302723"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00431-005-1630-2"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpedsurg.2009.11.011"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ydbio.2004.03.027"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1001\/archpedi.1987.04460090098038"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.juro.2011.09.036"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1083\/jcb.151.5.961"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bjps.2003.08.019"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1681\/ASN.2004090776"},{"key":"e_1_2_5_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpurol.2006.03.002"},{"key":"e_1_2_5_13_1","doi-asserted-by":"publisher","DOI":"10.1053\/jpsu.2001.20722"},{"key":"e_1_2_5_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3468(00)90014-9"},{"key":"e_1_2_5_15_1","doi-asserted-by":"publisher","DOI":"10.1159\/000264485"},{"key":"e_1_2_5_16_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00383-008-2193-x"},{"key":"e_1_2_5_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31523"},{"key":"e_1_2_5_18_1","doi-asserted-by":"publisher","DOI":"10.1002\/1096-8628(20001113)95:2<169::AID-AJMG15>3.0.CO;2-Z"},{"key":"e_1_2_5_19_1","doi-asserted-by":"publisher","DOI":"10.1002\/ar.10180"},{"key":"e_1_2_5_20_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19970613)70:3<250::AID-AJMG7>3.0.CO;2-#"},{"key":"e_1_2_5_21_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0002-9440(10)61747-6"},{"key":"e_1_2_5_22_1","doi-asserted-by":"publisher","DOI":"10.1203\/PDR.0b013e3181aa304a"},{"key":"e_1_2_5_23_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19991119)87:2<115::AID-AJMG2>3.0.CO;2-1"},{"key":"e_1_2_5_24_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320500206"},{"key":"e_1_2_5_25_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(05)82153-5"},{"key":"e_1_2_5_26_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ydbio.2008.03.017"},{"key":"e_1_2_5_27_1","first-page":"95","article-title":"Prune\u2010belly syndrome: Ongoing controversies regarding pathogenesis and management","volume":"5","author":"Wheatley JM","year":"1996","journal-title":"Semin Pediatr Surg"},{"key":"e_1_2_5_28_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1510"}],"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.35950","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.35950","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,18]],"date-time":"2023-10-18T07:53:28Z","timestamp":1697615608000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.35950"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,5,17]]},"references-count":27,"journal-issue":{"issue":"7","published-print":{"date-parts":[[2013,7]]}},"alternative-id":["10.1002\/ajmg.a.35950"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.35950","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2013,5,17]]}}}