{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,30]],"date-time":"2025-12-30T23:14:08Z","timestamp":1767136448403,"version":"build-2238731810"},"reference-count":17,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2017,8,16]],"date-time":"2017-08-16T00:00:00Z","timestamp":1502841600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100009619","name":"Japan Agency for Medical Research and Development","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100009619","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2017,10]]},"abstract":"<jats:sec>\n                    <jats:label\/>\n                    <jats:p>\n                      Wiedemann\u2010Steiner syndrome (WDSTS) is an autosomal dominant disorder characterized by hypertrichosis, intellectual disability, and dysmorphic facial appearances (down\u2010slanted vertically narrow palpebral fissures, wide nasal bridge, broad nasal tip, and thick eyebrows). In 2012, Jones and co\u2010workers identified heterozygous mutations in\n                      <jats:italic>KMT2A<\/jats:italic>\n                      (lysine methyltransferase 2A) as the molecular cause of WDSTS. Although the phenotype of this syndrome continues to expand, the associated features are not fully understood. Here, we report WDSTS in a 12\u2010year\u2010old Japanese boy with a novel nonsense mutation in\n                      <jats:italic>KMT2A<\/jats:italic>\n                      . He had right preaxial polydactyly, which has not been previously reported in WDSTS. We could not identify a causal relationship between the\n                      <jats:italic>KMT2A<\/jats:italic>\n                      mutation and preaxial polydactyly, and cannot exclude the preaxial polydactyly is a simple coincidence. We summarized the clinical features of WDSTS associated with\n                      <jats:italic>KMT2A<\/jats:italic>\n                      mutation and discussed the cardinal symptoms in detail.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/ajmg.a.38405","type":"journal-article","created":{"date-parts":[[2017,8,17]],"date-time":"2017-08-17T03:51:07Z","timestamp":1502941867000},"page":"2821-2825","source":"Crossref","is-referenced-by-count":12,"title":["Preaxial polydactyly in an individual with Wiedemann\u2010Steiner syndrome caused by a novel nonsense mutation in\n                    <i>KMT2A<\/i>"],"prefix":"10.1002","volume":"173","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6377-997X","authenticated-orcid":false,"given":"Takashi","family":"Enokizono","sequence":"first","affiliation":[{"name":"Department of Pediatrics University of Tsukuba Hospital Ibaraki 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