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While these four brothers have inherited the same mutation, they manifest a spectrum of phenotypes, ranging from complete, multiple pituitary hormone deficiencies to no apparent pituitary hormone deficiency with or without craniopharyngeal\/facial dysmorphisms. We look to the literature to provide putative explanations for the variable expression of the brothers\u2019 shared<jats:italic>SOX3<\/jats:italic>mutation.<\/jats:p>","DOI":"10.1515\/jpem-2015-0131","type":"journal-article","created":{"date-parts":[[2015,8,26]],"date-time":"2015-08-26T17:53:11Z","timestamp":1440611591000},"page":"443-447","source":"Crossref","is-referenced-by-count":8,"title":["Marked phenotypic variable expression among brothers with duplication of Xq27.1 involving the<i>SOX3<\/i>gene"],"prefix":"10.1515","volume":"33","author":[{"given":"Elizabeth T.","family":"Rosolowsky","sequence":"first","affiliation":[{"name":"Division of Endocrinology, Department of Pediatrics , University of Alberta , 4-509 11405-87th Ave , Edmonton, AB Canada T6G1C9 , Canada , Phone: +780-248-5483, Fax: +888-775-8879"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robert","family":"Stein","sequence":"additional","affiliation":[{"name":"Division of Pediatric Endocrinology, Schulich School of Medicine , Western University , London, Ontario , Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Seth D.","family":"Marks","sequence":"additional","affiliation":[{"name":"Section of Pediatric Endocrinology and Metabolism, Department of Pediatrics and Child Health , University of Manitoba , Winnipeg, Manitoba , Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Norma","family":"Leonard","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics , University of Alberta , Edmonton, Alberta , Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"374","published-online":{"date-parts":[[2015,8,26]]},"reference":[{"key":"2023040101053356579_j_jpem-2015-0131_ref_001_w2aab3b7b2b1b6b1ab2b1b1Aa","doi-asserted-by":"crossref","unstructured":"de Moraes DC, Vaisman M, Concei\u00e7\u00e3o FL, Ortiga-Carvalho TM. 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