{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,25]],"date-time":"2026-07-25T17:56:52Z","timestamp":1785002212241,"version":"3.55.0"},"reference-count":20,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2022,11,1]],"date-time":"2022-11-01T00:00:00Z","timestamp":1667260800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100001352","name":"National University of Singapore","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100001352","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2023,3]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Isolated syndactyly is a common limb malformation with limited known genetic etiology. We used exome sequencing to discover a novel heterozygous missense variant c.2915G\u2009&gt;\u2009C: p.Arg972Pro in\n                    <jats:italic>AFF3<\/jats:italic>\n                    on chromosome 2q11.2 in a family with isolated syndactyly in hands and feet. AFF3 belongs to a family of nuclear transcription activating factors and is involved in limb dorsoventral patterning. The variant Arg972Pro is located near the C terminus, a region that is yet to be associated with human disorders. Functional studies did not show a difference in the stability or subcellular localization of the mutant and wild type proteins. Instead, overexpression in zebrafish embryos suggests that Arg972Pro is a loss\u2010of\u2010function allele. These results suggest that variants in the C terminus of AFF3 may cause a phenotype distinct from previously characterized\n                    <jats:italic>AFF3<\/jats:italic>\n                    variants.\n                  <\/jats:p>","DOI":"10.1111\/cge.14254","type":"journal-article","created":{"date-parts":[[2022,10,23]],"date-time":"2022-10-23T12:10:02Z","timestamp":1666527002000},"page":"341-345","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["A novel variant in\n                    <scp>AFF3<\/scp>\n                    underlying isolated syndactyly"],"prefix":"10.1111","volume":"103","author":[{"given":"Hammal","family":"Khan","sequence":"first","affiliation":[{"name":"Department of Biosciences COMSATS University Islamabad  Islamabad Pakistan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Glenn","family":"Koh","sequence":"additional","affiliation":[{"name":"Department of Biological 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