{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,4]],"date-time":"2026-05-04T23:32:35Z","timestamp":1777937555760,"version":"3.51.4"},"reference-count":13,"publisher":"SAGE Publications","issue":"4","license":[{"start":{"date-parts":[[2020,4,6]],"date-time":"2020-04-06T00:00:00Z","timestamp":1586131200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["Pediatr Dev Pathol"],"published-print":{"date-parts":[[2020,8]]},"abstract":"<jats:p>Mowat\u2013Wilson syndrome (MWS) is a syndromic form of Hirschsprung disease that is characterized by variable degrees of intellectual disability, characteristic facial dysmorphism, and a diverse set of other congenital malformations due to haploinsufficiency of ZEB2. A variety of brain malformations have been described in neuroimaging studies of MWS patients, and the role of ZEB2 in the brain has been studied in a multitude of genetically engineered mouse models that are now available. However, a paucity of autopsy information limits our ability to correlate data from neuroimaging studies and animal models with actual MWS patient tissues. Here, we report the autopsy neuropathology of a 19-year-old male patient with MWS. Autopsy neuropathology findings correlated well with the reported MWS neuroimaging data and are in keeping with data from genetically engineered MWS mouse models. This autopsy enhances our understanding of ZEB2 function in human brain development and demonstrates the reliability of MWS murine models.<\/jats:p>","DOI":"10.1177\/1093526620903956","type":"journal-article","created":{"date-parts":[[2020,4,6]],"date-time":"2020-04-06T20:45:58Z","timestamp":1586205958000},"page":"322-325","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":4,"title":["Neuropathology of Mowat\u2013Wilson Syndrome"],"prefix":"10.1177","volume":"23","author":[{"given":"Miriam R.","family":"Conces","sequence":"first","affiliation":[{"name":"Department of Pathology & Laboratory Medicine, Nationwide Children\u2019s Hospital, Columbus, Ohio"},{"name":"Department of Pathology, The Ohio State University, Columbus, Ohio"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anna","family":"Hughes","sequence":"additional","affiliation":[{"name":"Department of Pathology & Laboratory Medicine, Nationwide Children\u2019s Hospital, Columbus, Ohio"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Christopher R.","family":"Pierson","sequence":"additional","affiliation":[{"name":"Department of Pathology & Laboratory Medicine, Nationwide Children\u2019s Hospital, Columbus, Ohio"},{"name":"Department of Pathology, The Ohio State University, Columbus, Ohio"},{"name":"Division of Anatomy, Department of Biomedical Education & Anatomy, The Ohio State University, Columbus, Ohio"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","published-online":{"date-parts":[[2020,4,6]]},"reference":[{"key":"bibr1-1093526620903956","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.35.8.617"},{"key":"bibr2-1093526620903956","doi-asserted-by":"publisher","DOI":"10.1038\/86860"},{"key":"bibr3-1093526620903956","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/10.14.1503"},{"key":"bibr4-1093526620903956","doi-asserted-by":"publisher","DOI":"10.1016\/j.brainres.2018.09.034"},{"key":"bibr5-1093526620903956","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2016.176"},{"key":"bibr6-1093526620903956","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2013.03.003"},{"key":"bibr7-1093526620903956","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2017.221"},{"key":"bibr8-1093526620903956","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0609863104"},{"key":"bibr9-1093526620903956","doi-asserted-by":"publisher","DOI":"10.1016\/j.neuron.2011.12.021"},{"key":"bibr10-1093526620903956","doi-asserted-by":"publisher","DOI":"10.1016\/j.neuron.2015.01.018"},{"key":"bibr11-1093526620903956","doi-asserted-by":"publisher","DOI":"10.1523\/JNEUROSCI.2674-17.2018"},{"key":"bibr12-1093526620903956","doi-asserted-by":"publisher","DOI":"10.1016\/j.neuron.2012.11.035"},{"key":"bibr13-1093526620903956","doi-asserted-by":"publisher","DOI":"10.1016\/j.neuron.2012.11.009"}],"container-title":["Pediatric and Developmental Pathology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/1093526620903956","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/full-xml\/10.1177\/1093526620903956","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/1093526620903956","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,5,2]],"date-time":"2026-05-02T04:06:28Z","timestamp":1777694788000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1177\/1093526620903956"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,4,6]]},"references-count":13,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2020,8]]}},"alternative-id":["10.1177\/1093526620903956"],"URL":"https:\/\/doi.org\/10.1177\/1093526620903956","relation":{},"ISSN":["1093-5266","1615-5742"],"issn-type":[{"value":"1093-5266","type":"print"},{"value":"1615-5742","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,4,6]]}}}