{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T21:46:18Z","timestamp":1790718378664,"version":"4.1.0"},"reference-count":18,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2020,8,3]],"date-time":"2020-08-03T00:00:00Z","timestamp":1596412800000},"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":["Clinical Genetics"],"published-print":{"date-parts":[[2020,9]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Neural tube defects (NTD) are among the most common congenital anomalies, affecting about 1:1000 births. In most cases, the etiology of NTD is multifactorial and the genetic variants associated with them remain largely unknown. There is extensive evidence from animal models over the past two decades implicating\n                    <jats:italic>SHROOM3<\/jats:italic>\n                    in neural tube formation; however, its exact role in human disease has remained elusive. In this report, we present the first case of a human fetus with a homozygous loss of function variant in\n                    <jats:italic>SHROOM3<\/jats:italic>\n                    . The fetus presents with anencephaly and cleft lip and palate, similar to previously described\n                    <jats:italic>Shroom3<\/jats:italic>\n                    mouse mutants and is suggestive of a novel monogenic cause of NTD. Our case provides clarification on the contribution of\n                    <jats:italic>SHROOM3<\/jats:italic>\n                    to human development after decades of model organism research.\n                  <\/jats:p>","DOI":"10.1111\/cge.13804","type":"journal-article","created":{"date-parts":[[2020,7,3]],"date-time":"2020-07-03T23:33:46Z","timestamp":1593819226000},"page":"299-302","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":15,"title":["A homozygous pathogenic variant in\n                    <scp>\n                      <i>SHROOM3<\/i>\n                    <\/scp>\n                    associated with anencephaly and cleft lip and palate"],"prefix":"10.1111","volume":"98","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-9239-3846","authenticated-orcid":false,"given":"Ashish R.","family":"Deshwar","sequence":"first","affiliation":[{"name":"Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children University of Toronto  Toronto Ontario Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicole","family":"Martin","sequence":"additional","affiliation":[{"name":"The Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynecology, Mount Sinai Hospital University of Toronto  Toronto Ontario Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patrick","family":"Shannon","sequence":"additional","affiliation":[{"name":"Department of Pathology, Mount Sinai Hospital University of Toronto  Toronto Ontario Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1944-7294","authenticated-orcid":false,"given":"David","family":"Chitayat","sequence":"additional","affiliation":[{"name":"Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children University of Toronto  Toronto Ontario Canada"},{"name":"The Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynecology, Mount Sinai Hospital University of Toronto  Toronto Ontario Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2020,8,3]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.spen.2009.06.001"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.30054"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/path.2643"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1146\/annurev-neuro-062012-170354"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19980526)77:4<317::AID-AJMG13>3.0.CO;2-L"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1028-4559(08)60122-9"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/mgg3.467"},{"key":"e_1_2_8_9_1","doi-asserted-by":"crossref","first-page":"1","DOI":"10.3389\/fnins.2019.01285","article-title":"Whole\u2010exome sequencing identifies damaging de novo variants in anencephalic cases","volume":"13","author":"Wang L","year":"2019","journal-title":"Front Neurosci"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0092-8674(00)81537-8"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1242\/bio.20147450"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cub.2003.11.054"},{"key":"e_1_2_8_13_1","doi-asserted-by":"publisher","DOI":"10.1242\/dev.083253"},{"key":"e_1_2_8_14_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2015-103027"},{"key":"e_1_2_8_15_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-017-1864-x"},{"key":"e_1_2_8_16_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41586-020-2308-7"},{"key":"e_1_2_8_17_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-016-1754-7"},{"key":"e_1_2_8_18_1","doi-asserted-by":"publisher","DOI":"10.1242\/dev.019646"},{"key":"e_1_2_8_19_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.148"}],"container-title":["Clinical 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