{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T15:25:35Z","timestamp":1791300335132,"version":"4.1.0"},"reference-count":19,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2019,8,21]],"date-time":"2019-08-21T00:00:00Z","timestamp":1566345600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100001411","name":"Indian Council of Medical Research","doi-asserted-by":"publisher","award":["45\/10\/2015\u2010HUM\u2010 BMS"],"award-info":[{"award-number":["45\/10\/2015\u2010HUM\u2010 BMS"]}],"id":[{"id":"10.13039\/501100001411","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001411","name":"Indian Council of Medical Research","doi-asserted-by":"publisher","award":["5\/13\/58\/2015\/NCD\u2010III"],"award-info":[{"award-number":["5\/13\/58\/2015\/NCD\u2010III"]}],"id":[{"id":"10.13039\/501100001411","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004047","name":"Karolinska Institutet","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100004047","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2019,12]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Meckel syndrome (MKS) is a perinatally lethal, genetically heterogeneous, autosomal recessive condition caused by defective primary cilium formation leading to polydactyly, multiple cysts in kidneys and malformations of nervous system. We performed exome sequencing in six fetuses from six unrelated families with MKS. We identified seven novel variants in\n                    <jats:italic>B9D2<\/jats:italic>\n                    ,\n                    <jats:italic>TNXDC15, CC2D2A<\/jats:italic>\n                    ,\n                    <jats:italic>CEP290<\/jats:italic>\n                    and\n                    <jats:italic>TMEM67<\/jats:italic>\n                    . We describe the second family with MKS due to a homozygous variant in\n                    <jats:italic>B9D2<\/jats:italic>\n                    and fifth family with bi\u2010allelic variant in\n                    <jats:italic>TXNDC15<\/jats:italic>\n                    . Our data validates the causation of MKS by pathogenic variation in\n                    <jats:italic>B9D2<\/jats:italic>\n                    and\n                    <jats:italic>TXNDC15<\/jats:italic>\n                    and also adds novel variants in\n                    <jats:italic>CC2D2A<\/jats:italic>\n                    ,\n                    <jats:italic>CEP290<\/jats:italic>\n                    and\n                    <jats:italic>TMEM67<\/jats:italic>\n                    to the literature.\n                  <\/jats:p>","DOI":"10.1111\/cge.13623","type":"journal-article","created":{"date-parts":[[2019,8,14]],"date-time":"2019-08-14T11:03:45Z","timestamp":1565780625000},"page":"560-565","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":27,"title":["Meckel syndrome: Clinical and mutation profile in six fetuses"],"prefix":"10.1111","volume":"96","author":[{"given":"Periyasamy","family":"Radhakrishnan","sequence":"first","affiliation":[{"name":"Department of Medical Genetics, Kasturba Medical College, Manipal Manipal Academy of Higher Education  Manipal India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shalini S.","family":"Nayak","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Kasturba Medical College, Manipal Manipal Academy of Higher Education  Manipal India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2471-4094","authenticated-orcid":false,"given":"Anju","family":"Shukla","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Kasturba Medical College, Manipal Manipal Academy of Higher Education  Manipal 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India"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2019,8,21]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.3389\/fped.2017.00244"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1007\/s12035-010-8154-0"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.31.6.482"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2011.06.003"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13059-016-1099-5"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.4592"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12762"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2016.11.006"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkm290"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1242\/jcs.028621"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0712385105"},{"key":"e_1_2_8_13_1","doi-asserted-by":"publisher","DOI":"10.2741\/2178"},{"key":"e_1_2_8_14_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddp422"},{"key":"e_1_2_8_15_1","doi-asserted-by":"publisher","DOI":"10.1242\/dmm.006262"},{"key":"e_1_2_8_16_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2015-103087"},{"key":"e_1_2_8_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/mgg3.614"},{"key":"e_1_2_8_18_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41588-018-0054-7"},{"key":"e_1_2_8_19_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1713"},{"key":"e_1_2_8_20_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10024-004-7084-0"}],"container-title":["Clinical 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