{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,4]],"date-time":"2026-06-04T01:33:59Z","timestamp":1780536839533,"version":"3.54.1"},"reference-count":24,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2020,4,1]],"date-time":"2020-04-01T00:00:00Z","timestamp":1585699200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2020,6]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Two 1p36 contiguous gene deletion syndromes are known so far: the terminal 1p36 deletion syndrome and a 1p36 deletion syndrome with a critical region located more proximal at 1p36.23\u20101p36.22. We present even more proximally located overlapping deletions from seven individuals, with the smallest region of overlap comprising 1\u2009Mb at 1p36.13\u20101p36.12 (chr1:19077793\u201020081292 (GRCh37\/hg19)) defining a new contiguous gene deletion syndrome. The characteristic features of this new syndrome are learning disability or mild intellectual disability, speech delay, behavioral abnormalities, and ptosis. The genes\n                    <jats:italic>UBR4<\/jats:italic>\n                    and\n                    <jats:italic>CAPZB<\/jats:italic>\n                    are considered the most likely candidate genes for the features of this new syndrome.\n                  <\/jats:p>","DOI":"10.1111\/cge.13739","type":"journal-article","created":{"date-parts":[[2020,3,14]],"date-time":"2020-03-14T01:44:15Z","timestamp":1584150255000},"page":"927-932","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["A new 1p36.13\u20101p36.12 microdeletion syndrome characterized by learning disability, behavioral abnormalities, and ptosis"],"prefix":"10.1111","volume":"97","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6489-1680","authenticated-orcid":false,"given":"Line","family":"Aagaard Nolting","sequence":"first","affiliation":[{"name":"Department of Clinical Genetics Odense University Hospital  Odense Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Charlotte","family":"Brasch\u2010Andersen","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Odense University Hospital  Odense Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Helen","family":"Cox","sequence":"additional","affiliation":[{"name":"Clinical Genetics Unit West Midlands Regional Clinical Genetics Unit Birmingham U.K.  Birmingham UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Farah","family":"Kanani","sequence":"additional","affiliation":[{"name":"Sheffield Clinical Genetics Service Northern General Hospital  Sheffield UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael","family":"Parker","sequence":"additional","affiliation":[{"name":"Sheffield Clinical Genetics Service Northern General Hospital  Sheffield UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrew 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