{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,12]],"date-time":"2026-06-12T15:09:41Z","timestamp":1781276981767,"version":"3.54.1"},"reference-count":12,"publisher":"SAGE Publications","issue":"2","license":[{"start":{"date-parts":[[2024,12,10]],"date-time":"2024-12-10T00:00:00Z","timestamp":1733788800000},"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":[[2025,3]]},"abstract":"<jats:p>\n                    An infant with intrauterine growth restriction, suspected of having MIRAGE syndrome based on prenatal ultrasound, presented with genital ambiguity, adrenal insufficiency, intractable diarrhea from birth, and a pathogenic\n                    <jats:italic>SAMD9<\/jats:italic>\n                    mutation (\n                    <jats:italic>c.1376G&gt;A, p.R459Q<\/jats:italic>\n                    ). Endoscopic biopsies of the duodenum revealed complex light and electron microscopic abnormalities. Hypoplastic villi without signs of enteritis suggests a disorder of mucosal growth with reduced absorptive surface area contributes to intractable diarrhea. Ultrastructural study showed prominent dilated endoplasmic reticulum, abnormalities of Golgi morphology, specialized granule, and mucin processing. We hypothesize that the\n                    <jats:italic>SAMD9<\/jats:italic>\n                    mutation alters mucosal growth, and the processing of mucin, Paneth and neurosecretory granules, with premature degradation of specific granules in enterocyte lysosomes. These distinctive morphological findings support the idea that multisystem manifestations of MIRAGE syndrome are due to a primary disorder of microsomal trafficking.\n                  <\/jats:p>","DOI":"10.1177\/10935266241304692","type":"journal-article","created":{"date-parts":[[2024,12,10]],"date-time":"2024-12-10T07:32:14Z","timestamp":1733815934000},"page":"111-116","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":2,"title":["A Case of MIRAGE Syndrome with\n                    <i>SAMD9<\/i>\n                    Mutation and Refractory Infantile Diarrhea: Endoscopic Biopsy Evaluation via Light and Electron Microscopy"],"prefix":"10.1177","volume":"28","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-4295-4921","authenticated-orcid":false,"given":"Kevin Emil","family":"Bove","sequence":"first","affiliation":[{"name":"Division of Pathology, Cincinnati Children\u2019s Hospital Medical Center, Cincinnati, OH, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3649-3885","authenticated-orcid":false,"given":"Oscar","family":"Lopez-Nunez","sequence":"additional","affiliation":[{"name":"Division of Pathology, Cincinnati Children\u2019s Hospital Medical Center, Cincinnati, OH, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jiri","family":"Bedrnicek","sequence":"additional","affiliation":[{"name":"Departments of Pathology (JB) and Pediatrics, Children\u2019s Hospital and Medical Center, Omaha, NE, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrew","family":"Huang","sequence":"additional","affiliation":[{"name":"Departments of Pathology (JB) and Pediatrics, Children\u2019s Hospital and Medical Center, Omaha, NE, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David","family":"Freestone","sequence":"additional","affiliation":[{"name":"Departments of Pathology (JB) and Pediatrics, Children\u2019s Hospital and Medical Center, Omaha, NE, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicole","family":"Birge","sequence":"additional","affiliation":[{"name":"Departments of Pathology (JB) and Pediatrics, Children\u2019s Hospital and Medical Center, Omaha, NE, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sandeep","family":"Kumar","sequence":"additional","affiliation":[{"name":"Departments of Pathology (JB) and Pediatrics, Children\u2019s Hospital and Medical Center, Omaha, NE, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"179","published-online":{"date-parts":[[2024,12,10]]},"reference":[{"key":"e_1_3_2_2_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng.3569"},{"key":"e_1_3_2_3_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.38557"},{"key":"e_1_3_2_4_2","doi-asserted-by":"publisher","DOI":"10.3389\/fendo.2022.953707"},{"key":"e_1_3_2_5_2","first-page":"1993","volume-title":"GeneReviews\u00ae","author":"Tanase-Nakao K","year":"2020","unstructured":"Tanase-Nakao K, Olson TS, Narumi S. MIRAGE syndrome. In: Adam MP, Ardinger HH, Pagon RA, et al. (eds) GeneReviews\u00ae. University of Washington; 2020:1993-2022."},{"key":"e_1_3_2_6_2","doi-asserted-by":"publisher","DOI":"10.1038\/s41439-020-0091-5"},{"key":"e_1_3_2_7_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.cancergen.2020.06.002"},{"key":"e_1_3_2_8_2","doi-asserted-by":"publisher","DOI":"10.1093\/jnen\/nlaa009"},{"key":"e_1_3_2_9_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.clp.2019.10.010"},{"key":"e_1_3_2_10_2","doi-asserted-by":"publisher","DOI":"10.3389\/fendo.2023.1242387"},{"key":"e_1_3_2_11_2","doi-asserted-by":"publisher","DOI":"10.4274\/jcrpe.galenos.2019.2019.0053"},{"key":"e_1_3_2_12_2","first-page":"310","article-title":"Prenatal features of MIRAGE syndrome-case report and review of the literature","volume":"5","author":"Panaitescu AM","year":"2024","unstructured":"Panaitescu AM, Hulu\u021b\u0103 I, Gorecki GP, et al. Prenatal features of MIRAGE syndrome-case report and review of the literature. Children (Basel). 2024;5:310.","journal-title":"Children (Basel)"},{"key":"e_1_3_2_13_2","doi-asserted-by":"publisher","DOI":"10.1007\/978-3-030-23173-6_19"}],"container-title":["Pediatric and Developmental Pathology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/10935266241304692","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/full-xml\/10.1177\/10935266241304692","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/10935266241304692","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,5,2]],"date-time":"2026-05-02T04:11:13Z","timestamp":1777695073000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1177\/10935266241304692"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,12,10]]},"references-count":12,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2025,3]]}},"alternative-id":["10.1177\/10935266241304692"],"URL":"https:\/\/doi.org\/10.1177\/10935266241304692","relation":{},"ISSN":["1093-5266","1615-5742"],"issn-type":[{"value":"1093-5266","type":"print"},{"value":"1615-5742","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,12,10]]}}}