{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,24]],"date-time":"2026-09-24T12:02:59Z","timestamp":1790251379676,"version":"4.1.0"},"reference-count":25,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2020,7,21]],"date-time":"2020-07-21T00:00:00Z","timestamp":1595289600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100002347","name":"Bundesministerium f\u00fcr Bildung und Forschung","doi-asserted-by":"publisher","award":["Research Network MyPred (01GM1911B)"],"award-info":[{"award-number":["Research Network MyPred (01GM1911B)"]}],"id":[{"id":"10.13039\/501100002347","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001659","name":"Deutsche Forschungsgemeinschaft","doi-asserted-by":"publisher","award":["Cluster of Excellence REBIRTH (DFG EXC 62\/3)"],"award-info":[{"award-number":["Cluster of Excellence REBIRTH (DFG EXC 62\/3)"]}],"id":[{"id":"10.13039\/501100001659","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2020,10]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    We present two independent cases of syndromic thrombocytopenia with multiple malformations, microcephaly, learning difficulties, dysmorphism and other features. Exome sequencing identified two novel\n                    <jats:italic>de novo<\/jats:italic>\n                    heterozygous variants in these patients, c.35G&gt;T p.(Gly12Val) and c.178G&gt;C p.(Gly60Arg), in the\n                    <jats:italic>RAP1B<\/jats:italic>\n                    gene (NM_001010942.2). These variants have not been described previously as germline variants, however functional studies in literature strongly suggest a clinical implication of these two activating hot spot positions\n                    <jats:italic>.<\/jats:italic>\n                    We hypothesize that pathogenic missense variants in the\n                    <jats:italic>RAP1B<\/jats:italic>\n                    gene cause congenital syndromic thrombocytopenia with a spectrum of associated malformations and dysmorphism, possibly through a gain of function mechanism.\n                  <\/jats:p>","DOI":"10.1111\/cge.13807","type":"journal-article","created":{"date-parts":[[2020,7,6]],"date-time":"2020-07-06T03:30:02Z","timestamp":1594006202000},"page":"374-378","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":10,"title":["<i>De novo<\/i>\n                    missense variants in the\n                    <scp>\n                      <i>RAP1B<\/i>\n                    <\/scp>\n                    gene identified in two patients with syndromic thrombocytopenia"],"prefix":"10.1111","volume":"98","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-9864-1484","authenticated-orcid":false,"given":"Jan Hendrik","family":"Niemann","sequence":"first","affiliation":[{"name":"Department of Human Genetics Hannover Medical School  Hanover Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chen","family":"Du","sequence":"additional","affiliation":[{"name":"Department of Human Genetics Hannover Medical School  Hanover Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Susanne","family":"Morlot","sequence":"additional","affiliation":[{"name":"Department of Human Genetics Hannover Medical School  Hanover Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gunnar","family":"Schmidt","sequence":"additional","affiliation":[{"name":"Department of Human Genetics Hannover Medical School  Hanover Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bernd","family":"Auber","sequence":"additional","affiliation":[{"name":"Department of Human Genetics Hannover Medical School  Hanover Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Beate","family":"Kaune","sequence":"additional","affiliation":[{"name":"Department of Human Genetics Hannover Medical School  Hanover Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gudrun","family":"G\u00f6hring","sequence":"additional","affiliation":[{"name":"Department of Human Genetics Hannover Medical School  Hanover Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tim","family":"Ripperger","sequence":"additional","affiliation":[{"name":"Department of Human Genetics Hannover Medical School  Hanover 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