{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,18]],"date-time":"2026-09-18T20:53:54Z","timestamp":1789764834453,"version":"4.0.1"},"reference-count":16,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2013,5,28]],"date-time":"2013-05-28T00:00:00Z","timestamp":1369699200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2014,4]]},"abstract":"<jats:p>Craniofrontonasal syndrome (<jats:styled-content style=\"fixed-case\">CFNS<\/jats:styled-content>) is an X\u2010linked disorder caused by inactivating mutations in the gene for ephrin\u2010<jats:styled-content style=\"fixed-case\">B1<\/jats:styled-content> (<jats:italic><jats:styled-content style=\"fixed-case\">EFNB1<\/jats:styled-content><\/jats:italic>). Paradoxically it shows a more severe phenotype in females than in males. As a result of X inactivation cell populations with and without <jats:italic><jats:styled-content style=\"fixed-case\">EFNB1<\/jats:styled-content><\/jats:italic> expression are found in <jats:italic><jats:styled-content style=\"fixed-case\">EFNB1<\/jats:styled-content>+\/\u2212<\/jats:italic> females. This is thought to initiate a process termed cellular interference which may be responsible for the phenotype in females. We present a boy with severe clinical features of <jats:styled-content style=\"fixed-case\">CFNS<\/jats:styled-content>. In \u223c42% of his blood cells we found a supernumerary ring X chromosome containing <jats:italic><jats:styled-content style=\"fixed-case\">EFNB1<\/jats:styled-content><\/jats:italic> but lacking <jats:italic><jats:styled-content style=\"fixed-case\">XIST<\/jats:styled-content><\/jats:italic>. Mosaicism for cell populations with different levels of <jats:styled-content style=\"fixed-case\">EFNB1<\/jats:styled-content> expression can explain the severe phenotype of this patient. <jats:italic>In vitro<\/jats:italic> experiments in <jats:italic>Xenopus<\/jats:italic> tissue showed that cells overexpress <jats:styled-content style=\"fixed-case\">ephrinB1<\/jats:styled-content> cluster and sort out from wild\u2010type cells. Our report provides further evidence that cellular interference contributes to the paradoxical inheritance pattern of <jats:styled-content style=\"fixed-case\">CFNS<\/jats:styled-content>.<\/jats:p>","DOI":"10.1111\/cge.12171","type":"journal-article","created":{"date-parts":[[2013,4,24]],"date-time":"2013-04-24T17:31:34Z","timestamp":1366824694000},"page":"347-353","source":"Crossref","is-referenced-by-count":7,"title":["Craniofrontonasal syndrome in a male due to chromosomal mosaicism involving <i><scp>EFNB1<\/scp><\/i>: further insights into a genetic paradox"],"prefix":"10.1111","volume":"85","author":[{"given":"C.","family":"Evers","sequence":"first","affiliation":[{"name":"Institute of Human Genetics Heidelberg University  Heidelberg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.S.","family":"Jungwirth","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics Heidelberg University  Heidelberg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.","family":"Morgenthaler","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics Heidelberg University  Heidelberg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"K.","family":"Hinderhofer","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics Heidelberg University  Heidelberg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"B.","family":"Maas","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics Heidelberg University  Heidelberg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.W.G.","family":"Janssen","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics Heidelberg University  Heidelberg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.","family":"Jauch","sequence":"additional","affiliation":[{"name":"Institute of Human 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