{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,9,9]],"date-time":"2025-09-09T22:02:50Z","timestamp":1757455370167},"reference-count":21,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2011,11,3]],"date-time":"2011-11-03T00:00:00Z","timestamp":1320278400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2011,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We report on a follow\u2010up evaluation of a male with a phenotype including craniosynostosis, periventricular nodular heterotopia, and neurodevelopmental delay. He was initially assigned a clinical diagnosis of Fontaine\u2013Farriaux syndrome (FFS) as an infant although now, with improved delineation of this entity, it is evident that this diagnosis is not applicable to this individual. Array comparative genomic hybridization has demonstrated a 300\u2009kb interstitial deletion on Xp22.11 affecting all or part of three annotated genes, <jats:italic>ZFX<\/jats:italic>, <jats:italic>PDK3<\/jats:italic>, and <jats:italic>PCYT1B<\/jats:italic> in this subject. The deletion was inherited from the phenotypically normal mother who also exhibited markedly skewed X\u2010inactivation. These findings implicate hemizygosity for one or all three of these genes as the cause of this phenotype. \u00a9 2011 Wiley Periodicals, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.34311","type":"journal-article","created":{"date-parts":[[2011,11,3]],"date-time":"2011-11-03T21:11:02Z","timestamp":1320354662000},"page":"3144-3147","source":"Crossref","is-referenced-by-count":5,"title":["A novel Xp22.11 deletion causing a syndrome of craniosynostosis and periventricular nodular heterotopia"],"prefix":"10.1002","volume":"155","author":[{"given":"Margriet","family":"van Kogelenberg","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Margherita","family":"Lerone","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Teresa","family":"De Toni","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria 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