{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,23]],"date-time":"2026-08-23T14:49:20Z","timestamp":1787496560584,"version":"build-2736575974"},"reference-count":12,"publisher":"Wiley","issue":"3-4","license":[{"start":{"date-parts":[[2021,3,2]],"date-time":"2021-03-02T00:00:00Z","timestamp":1614643200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Annals of Human Genetics"],"published-print":{"date-parts":[[2021,5]]},"abstract":"Abstract<\/jats:title>\n \n Abnormalities in the normal left\u2013right axis asymmetry range from situs inversus totalis to situs ambiguous or heterotaxy. More than 80 genes have been described to have a role in the establishment of the normal situs of the internal organs. Pathogenic variants in the\n PKD1L1<\/jats:italic>\n gene have recently been described in heterotaxy and congenital heart disease. Till date, 11 families have been described with\n PKD1L1\u2010<\/jats:italic>\n related heterotaxy. We describe the first Indian family with two affected foetuses with\n PKD1L1<\/jats:italic>\n \u2010related nonimmune hydrops, congenital heart disease, situs inversus, and heterotaxy, with biallelic variants in the compound heterozygous state.\n <\/jats:p>","DOI":"10.1111\/ahg.12417","type":"journal-article","created":{"date-parts":[[2021,3,3]],"date-time":"2021-03-03T00:47:59Z","timestamp":1614732479000},"page":"138-145","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["Hydrops fetalis in\n PKD1L1<\/i>\n \u2010related heterotaxy: Report of two foetuses and expanding the phenotypic and molecular spectrum"],"prefix":"10.1111","volume":"85","author":[{"given":"Alec Reginald Errol","family":"Correa","sequence":"first","affiliation":[{"name":"Division of Genetics, Department of Pediatrics All India Institute of Medical Sciences New Delhi 110029 India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mounika","family":"Endrakanti","sequence":"additional","affiliation":[{"name":"Division of Genetics, Department of Pediatrics All India Institute of Medical Sciences New Delhi 110029 India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kamal","family":"Naini","sequence":"additional","affiliation":[{"name":"Division of Genetics, Department of Pediatrics All India Institute of Medical Sciences New Delhi 110029 India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Madhulika","family":"Kabra","sequence":"additional","affiliation":[{"name":"Division of Genetics, Department of Pediatrics All India Institute of Medical Sciences New Delhi 110029 India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Neerja","family":"Gupta","sequence":"additional","affiliation":[{"name":"Division of Genetics, Department of Pediatrics All India Institute of Medical Sciences New Delhi 110029 India"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2021,3,2]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1097\/00001573-200405000-00005"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/hep.30515"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1242\/dev.058149"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.3970"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.1242\/dev.058271"},{"key":"e_1_2_10_7_1","article-title":"Compound heterozygous Pkd1l1 variants in a family with two fetuses affected by heterotaxy and complex Chd","volume":"103657","author":"Le Fevre A.","year":"2019","journal-title":"European Journal of Medical Genetics"},{"key":"e_1_2_10_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41431-018-0307-z"},{"key":"e_1_2_10_9_1","doi-asserted-by":"publisher","DOI":"10.1083\/jcb.133.4.809"},{"key":"e_1_2_10_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_2_10_11_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.13512"},{"key":"e_1_2_10_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2016.07.011"},{"key":"e_1_2_10_13_1","doi-asserted-by":"publisher","DOI":"10.1177\/0300985809353553"}],"container-title":["Annals of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/ahg.12417","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1111\/ahg.12417","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/ahg.12417","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,1]],"date-time":"2023-09-01T04:33:08Z","timestamp":1693542788000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/ahg.12417"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,3,2]]},"references-count":12,"journal-issue":{"issue":"3-4","published-print":{"date-parts":[[2021,5]]}},"alternative-id":["10.1111\/ahg.12417"],"URL":"https:\/\/doi.org\/10.1111\/ahg.12417","archive":["Portico"],"relation":{},"ISSN":["0003-4800","1469-1809"],"issn-type":[{"value":"0003-4800","type":"print"},{"value":"1469-1809","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,3,2]]},"assertion":[{"value":"2020-09-19","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2021-02-08","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2021-03-02","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}