{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T12:26:56Z","timestamp":1790771216276,"version":"4.1.0"},"reference-count":21,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2017,8,17]],"date-time":"2017-08-17T00:00:00Z","timestamp":1502928000000},"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":[[2017,10]]},"abstract":"<jats:sec><jats:label\/><jats:p>Cabezas type of X\u2010linked syndromic intellectual disability (MRXSC; MIM300354) is a rare X\u2010linked recessive intellectual disability characterized primarily by intellectual disability, short stature, hypogonadism, and gait abnormalities. It is caused by a wide spectrum of hemizygous variants in <jats:italic>CUL4B<\/jats:italic>. In a 10\u2010year\u2010old boy with an exceptional leukoencephalopathy pattern, we identified a new missense variant p.Leu329Gln in <jats:italic>CUL4B<\/jats:italic> using \u201cMendeliome\u201d sequencing. However, his phenotype does not include the severe characteristics currently known for MRXSC. We discuss the divergent phenotype and propose a potential connection between the different <jats:italic>CUL4B<\/jats:italic> variants and corresponding phenotypes in the context of the current literature as well as 3D homology modeling.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.38390","type":"journal-article","created":{"date-parts":[[2017,8,17]],"date-time":"2017-08-17T13:30:42Z","timestamp":1502976642000},"page":"2803-2807","source":"Crossref","is-referenced-by-count":6,"title":["A new <i>CUL4B<\/i> variant associated with a mild phenotype and an exceptional pattern of leukoencephalopathy"],"prefix":"10.1002","volume":"173","author":[{"given":"Susann","family":"Weissbach","sequence":"first","affiliation":[{"name":"Division of Pediatric Neurology, Department of Pediatrics and Adolescent Medicine University Medical Center G\u00f6ttingen G\u00f6ttingen 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