{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T10:53:01Z","timestamp":1790679181957,"version":"4.1.0"},"reference-count":11,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2013,7,28]],"date-time":"2013-07-28T00:00:00Z","timestamp":1374969600000},"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":[[2014,8]]},"abstract":"<jats:p>Whole\u2010exome sequencing (<jats:styled-content style=\"fixed-case\">WES<\/jats:styled-content>) has proven its utility in finding novel genes associated with rare conditions and its usefulness is being further demonstrated in expanding the phenotypes of well known diseases. We present here a family with a previously undiagnosed X\u2010linked condition characterized by progressive restriction of joint range of motion, prominence of the supraorbital ridge, audiology issues and hernias. They had an average stature, normal occipitofrontal circumference and intelligence, absence of dysostosis multiplex and otherwise good health. A diagnosis of Hunter syndrome was determined using <jats:styled-content style=\"fixed-case\">WES<\/jats:styled-content> and further supported by biochemical investigations. The phenotype of this family does not correspond to either the severe or attenuated clinical subtypes of Hunter syndrome. As further atypical families are reported, this classification will need to be modified. Our findings highlight the utility of <jats:styled-content style=\"fixed-case\">WES<\/jats:styled-content> in expanding the recognized phenotypic spectrum of known syndromes.<\/jats:p>","DOI":"10.1111\/cge.12236","type":"journal-article","created":{"date-parts":[[2013,7,11]],"date-time":"2013-07-11T14:46:42Z","timestamp":1373554002000},"page":"172-176","source":"Crossref","is-referenced-by-count":7,"title":["Whole\u2010exome sequencing expands the phenotype of Hunter syndrome"],"prefix":"10.1111","volume":"86","author":[{"given":"S.M.","family":"Nikkel","sequence":"first","affiliation":[{"name":"Department of Genetics, Children's Hospital of Eastern Ontario Ottawa ON Canada"},{"name":"University of Ottawa Ottawa ON Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L.","family":"Huang","sequence":"additional","affiliation":[{"name":"Department of Genetics, Children's Hospital of Eastern Ontario Ottawa ON Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R.","family":"Lachman","sequence":"additional","affiliation":[{"name":"International Skeletal Dysplasia Registry Palo Alto California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C.L.","family":"Beaulieu","sequence":"additional","affiliation":[{"name":"University of Ottawa Ottawa ON Canada"},{"name":"Children's Hospital of Eastern Ontario Research Institute"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.","family":"Schwartzentruber","sequence":"additional","affiliation":[{"name":"McGill University and Genome Quebec Innovation Centre Montr\u00e9al QC Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"name":"FORGE Canada Consortium","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.","family":"Majewski","sequence":"additional","affiliation":[{"name":"McGill University and Genome Quebec Innovation Centre Montr\u00e9al QC Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.T.","family":"Geraghty","sequence":"additional","affiliation":[{"name":"University of Ottawa Ottawa ON Canada"},{"name":"Department of Pediatrics Children's Hospital of Eastern Ontario Ottawa ON Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"K.M.","family":"Boycott","sequence":"additional","affiliation":[{"name":"Department of Genetics, Children's Hospital of Eastern Ontario Ottawa ON Canada"},{"name":"University of Ottawa Ottawa ON Canada"},{"name":"Children's Hospital of Eastern Ontario Research Institute"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2013,7,28]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrg3031"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1126\/scitranslmed.3003544"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2012-101132"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31322"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.10212"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1097\/GIM.0b013e31817701e6"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-009-1119-7"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00431-013-1967-x"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1007\/8904_2011_90"},{"key":"e_1_2_6_11_1","first-page":"325","article-title":"A case of the Hunter syndrome with progeny","volume":"130","author":"DiFerrante N","year":"1972","journal-title":"Johns Hopkins Med J"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2006.09.001"}],"container-title":["Clinical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fcge.12236","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cge.12236","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,3]],"date-time":"2023-10-03T12:16:35Z","timestamp":1696335395000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/cge.12236"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,7,28]]},"references-count":11,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2014,8]]}},"alternative-id":["10.1111\/cge.12236"],"URL":"https:\/\/doi.org\/10.1111\/cge.12236","archive":["Portico"],"relation":{},"ISSN":["0009-9163","1399-0004"],"issn-type":[{"value":"0009-9163","type":"print"},{"value":"1399-0004","type":"electronic"}],"subject":[],"published":{"date-parts":[[2013,7,28]]}}}