{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,15]],"date-time":"2026-10-15T10:56:08Z","timestamp":1792061768995,"version":"4.4.0"},"reference-count":19,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2012,4,27]],"date-time":"2012-04-27T00:00:00Z","timestamp":1335484800000},"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":[[2012,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>PHACE syndrome (OMIM #606519) is a neurocutaneous syndrome of unknown etiology and pathogenesis. We report on an individual with PHACE syndrome with a complete deletion of <jats:italic>SLC35B4<\/jats:italic> on 7q33. In order to further analyze this region, <jats:italic>SLC35B4<\/jats:italic> was sequenced for 33 individuals with PHACE syndrome and one parental set. Common polymorphisms with a possible haplotype but no disease causing mutation were identified. Sixteen of 33 samples of the PHACE syndrome patients were also analyzed for copy number variations using high\u2010resolution oligo\u2010comparative genomic hybridization (CGH) microarray. A second individual in this cohort had a 26.5\u2009kb deletion approximately 80\u2009kb upstream of <jats:italic>SLC35B4<\/jats:italic> with partial deletion of the <jats:italic>AKR1B1<\/jats:italic> on 7q33. The deletions observed on 7q33 are not likely the singular cause of PHACE syndrome; however, it is possible that this region provides a genetic susceptibility to phenotypic expression with other confounding genetic or environmental factors. \u00a9 2012 Wiley Periodicals, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.35341","type":"journal-article","created":{"date-parts":[[2012,4,27]],"date-time":"2012-04-27T18:08:19Z","timestamp":1335550099000},"page":"1363-1367","source":"Crossref","is-referenced-by-count":25,"title":["Candidate locus analysis for PHACE syndrome"],"prefix":"10.1002","volume":"158A","author":[{"given":"Sheri","family":"Mitchell","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dawn H.","family":"Siegel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joseph T.C.","family":"Shieh","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David A.","family":"Stevenson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J. 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