{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,7]],"date-time":"2026-07-07T04:13:52Z","timestamp":1783397632491,"version":"3.54.6"},"reference-count":24,"publisher":"Wiley","license":[{"start":{"date-parts":[[2026,7,6]],"date-time":"2026-07-06T00:00:00Z","timestamp":1783296000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2026,7,6]],"date-time":"2026-07-06T00:00:00Z","timestamp":1783296000000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"funder":[{"DOI":"10.13039\/100000051","name":"National Human Genome Research Institute","doi-asserted-by":"publisher","award":["U01 HG011744"],"award-info":[{"award-number":["U01 HG011744"]}],"id":[{"id":"10.13039\/100000051","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000051","name":"National Human Genome Research Institute","doi-asserted-by":"publisher","award":["U24 HG011746"],"award-info":[{"award-number":["U24 HG011746"]}],"id":[{"id":"10.13039\/100000051","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100007185","name":"University of California, Los Angeles","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100007185","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100006390","name":"Universit\u00e9 de Lausanne","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100006390","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    Through the GeneMatcher data\u2010sharing database, we identified five affected individuals from four unrelated families with a skeletal dysplasia who have biallelic, putatively deleterious variants in\n                    <jats:italic>MIMS1<\/jats:italic>\n                    (formerly\n                    <jats:italic>FAM210A<\/jats:italic>\n                    ). The common features included chondrodysplasia with short stature, tracheal stenosis, conical teeth and\/or early tooth decay, and sparse hair suggestive of ectodermal dysplasia as a component of the phenotype. The radiographic features included platyspondyly, epiphyseal dysplasia of the long bones, short phalanges with delayed carpal ossification, lacy iliac crests, and calcaneal spurs, consistent with a form of spondyloepimetaphyseal dysplasia. Missense variants clustered within the conserved DUF1279 domain of MIMS1, while one family harbored compound heterozygous nonsense variants, collectively supporting a loss\u2010of\u2010function mechanism. According to the dyadic naming convention in the latest Nosology of Genetic Disorders of Bone, we suggest the name of \u201cSpondyloepimetaphyseal dysplasia with tracheal stenosis and ectodermal dysplasia (SEMDTSED), MIMS1\u2010related.\u201d\n                  <\/jats:p>","DOI":"10.1002\/ajmg.a.70243","type":"journal-article","created":{"date-parts":[[2026,7,7]],"date-time":"2026-07-07T03:13:37Z","timestamp":1783394017000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Biallelic Variants in\n                    <i>MIMS1<\/i>\n                    Produce a Form of Spondyloepimetaphyseal Dysplasia With Tracheal Stenosis and Ectodermal Dysplasia (\n                    <scp>SEMDTSED<\/scp>\n                    )"],"prefix":"10.1002","author":[{"given":"Abdullah","family":"Sezer","sequence":"first","affiliation":[{"name":"Department of Medical Genetics Ankara Etlik City Hospital  Ankara T\u00fcrkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mathieu","family":"Quinodoz","sequence":"additional","affiliation":[{"name":"Institute of Molecular and Clinical Ophthalmology Basel  Basel Switzerland"},{"name":"Department of Ophthalmology University of Basel  Basel Switzerland"},{"name":"Department of Genetics and Genome Biology University of Leicester  Leicester UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bing","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Molecular, Cell, and Developmental Biology, Department of Orthopaedic Surgery University of California, Los Angeles  Los Angeles California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bruce R.","family":"Korf","sequence":"additional","affiliation":[{"name":"Department of Genetics University of Alabama at Birmingham  Birmingham Alabama USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francesco 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