{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,11,1]],"date-time":"2026-11-01T17:27:19Z","timestamp":1793554039112,"version":"4.5.0"},"reference-count":37,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2022,8,16]],"date-time":"2022-08-16T00:00:00Z","timestamp":1660608000000},"content-version":"vor","delay-in-days":227,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2022,1,1]],"date-time":"2022-01-01T00:00:00Z","timestamp":1640995200000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"funder":[{"DOI":"10.13039\/501100001691","name":"Japan Society for the Promotion of Science","doi-asserted-by":"publisher","award":["19H03627"],"award-info":[{"award-number":["19H03627"]}],"id":[{"id":"10.13039\/501100001691","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100007786","name":"National Center for Child Health and Development","doi-asserted-by":"publisher","award":["2020B\u20103"],"award-info":[{"award-number":["2020B\u20103"]}],"id":[{"id":"10.13039\/100007786","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Pediatrics International"],"published-print":{"date-parts":[[2022,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Since the first report in 2009, whole exome sequencing has become the most effective and efficient research tool in human genetics. MIRAGE syndrome is a novel single\u2010gene disorder discovered through whole\u2010exome sequencing for pediatric patients with adrenal insufficiency of unknown etiology, and is caused by\n                    <jats:italic>de novo<\/jats:italic>\n                    heterozygous variants in\n                    <jats:italic>SAMD9<\/jats:italic>\n                    . MIRAGE syndrome was initially discovered as a systemic disease affecting multiple systems, including hematopoietic, immune, endocrine, and gastrointestinal systems but later studies revealed a subset of patients with myelodysplastic syndrome as the sole manifestation. In addition, pathogenic variants in\n                    <jats:italic>SAMD9L<\/jats:italic>\n                    , a paralog gene of\n                    <jats:italic>SAMD9<\/jats:italic>\n                    , were reported to cause an inherited disorder of the hematopoietic system and central nervous system, called ataxia\u2010pancytopenia syndrome. This article reviews the history of MIRAGE syndrome from its discovery to the proposal of SAMD9\/SAMD9L syndromes, and discusses directions for future research.\n                  <\/jats:p>","DOI":"10.1111\/ped.15283","type":"journal-article","created":{"date-parts":[[2022,6,28]],"date-time":"2022-06-28T16:18:52Z","timestamp":1656433132000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":12,"title":["Discovery of\n                    <scp>MIRAGE<\/scp>\n                    syndrome"],"prefix":"10.1111","volume":"64","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-0940-4517","authenticated-orcid":false,"given":"Satoshi","family":"Narumi","sequence":"first","affiliation":[{"name":"Department of Molecular Endocrinology National Research Institute for Child Health and Development  Tokyo 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