{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,16]],"date-time":"2026-04-16T06:44:12Z","timestamp":1776321852400,"version":"3.50.1"},"reference-count":37,"publisher":"Wiley","issue":"14","license":[{"start":{"date-parts":[[2020,5,27]],"date-time":"2020-05-27T00:00:00Z","timestamp":1590537600000},"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":["Birth Defects Research"],"published-print":{"date-parts":[[2020,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Several somatic mutations in<jats:italic>TRAF7<\/jats:italic>have been reported in cancers, whereas a few germline heterozygous mutations have been recently linked to a neurodevelopmental disorder, characterized by craniofacial dysmorphisms, congenital heart defects, and digital anomalies.<\/jats:p><\/jats:sec><jats:sec><jats:title>Cases<\/jats:title><jats:p>We report two subjects harboring de novo heterozygous missense variants in<jats:italic>TRAF7<\/jats:italic>, namely the recurrent 1964G&gt;A(p.Arg655Gln) and the<jats:italic>novel<\/jats:italic>missense c.1204C&gt;G(p.Leu402Val) variants. In addition to the typical hallmarks of the TRAF7\u2010related disorder, both subjects presented with a recognizable \u201cpear\u2010shaped\u201d skull due to multiple craniosynostosis, sinus pericranii, skull base\/cranio\u2010cervical junction anomalies, dysgyria, and inferior cerebellar vermis hypoplasia.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>Hence, we expand the genotypic and phenotypic spectrum of this neurodevelopmental disorder, discussing possible implications for clinical management of subjects with germline<jats:italic>TRAF7<\/jats:italic>mutations.<\/jats:p><\/jats:sec>","DOI":"10.1002\/bdr2.1711","type":"journal-article","created":{"date-parts":[[2020,5,27]],"date-time":"2020-05-27T11:07:27Z","timestamp":1590577647000},"page":"1085-1092","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["Sinus pericranii, skull defects, and structural brain anomalies 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