{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T18:19:47Z","timestamp":1790705987343,"version":"4.1.0"},"reference-count":19,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2022,6,5]],"date-time":"2022-06-05T00:00:00Z","timestamp":1654387200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2022,9]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Waardenburg syndrome is a group of genetic conditions that can cause hearing loss and pigmentation deficiency of the hair, skin, and eyes. Klein\u2010Waardenburg syndrome (Waardenburg syndrome type 3) represents a distinct presentation of Waardenburg syndrome type 1 and includes musculoskeletal abnormalities in addition to dystopia canthorum hearing loss and pigmentary changes. Heterozygous or homozygous variants in the\n                    <jats:italic>PAX3<\/jats:italic>\n                    gene cause Klein\u2010Waardenburg syndrome. Here we report on a new severely affected child, with a homozygous\n                    <jats:italic>PAX3<\/jats:italic>\n                    variant (c.251C&gt;T; p.Ser84Phe), review the features of the syndrome, and propose a new classification. The designation of Waardenburg syndrome should be given only to patients with monoallelic pathogenic variants in\n                    <jats:italic>PAX3<\/jats:italic>\n                    whether or not musculoskeletal abnormalities are present. Patients with biallelic\n                    <jats:italic>PAX3<\/jats:italic>\n                    variants should be outlined as a distinct group and designated Klein syndrome.\n                  <\/jats:p>","DOI":"10.1111\/cge.14167","type":"journal-article","created":{"date-parts":[[2022,5,24]],"date-time":"2022-05-24T03:31:44Z","timestamp":1653363104000},"page":"223-227","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Biallelic variants in\n                    <scp>\n                      <i>PAX3<\/i>\n                    <\/scp>\n                    cause Klein syndrome"],"prefix":"10.1111","volume":"102","author":[{"given":"Somaya","family":"Salah","sequence":"first","affiliation":[{"name":"Department of Genetics Hadassah Medical Center and the Hebrew University  Jerusalem Israel"},{"name":"Genetic Unit Palestine Red Crescent Society Hospital  Hebron Palestine"},{"name":"Paediatric Department Palestine Red Crescent Society Hospital  Hebron Palestine"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vardiella","family":"Meiner","sequence":"additional","affiliation":[{"name":"Department of Genetics Hadassah Medical Center and the Hebrew University  Jerusalem Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Abdelrazzaq","family":"Abumayaleh","sequence":"additional","affiliation":[{"name":"Paediatric Department Palestine Red Crescent Society Hospital  Hebron Palestine"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ali","family":"Asafra","sequence":"additional","affiliation":[{"name":"Paediatric Department Palestine Red Crescent Society Hospital  Hebron Palestine"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Taher","family":"Al\u2010Sharif","sequence":"additional","affiliation":[{"name":"Paediatric Department Al Ahli Hospital  Hebron Palestine"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Orwa","family":"Al\u2010Fallah","sequence":"additional","affiliation":[{"name":"Radiology Department Al Ahli Hospital  Hebron Palestine"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Belal","family":"Hasasneh","sequence":"additional","affiliation":[{"name":"Radiology Department Al Ahli Hospital  Hebron Palestine"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6293-2979","authenticated-orcid":false,"given":"Jo\u00ebl","family":"Zlotogora","sequence":"additional","affiliation":[{"name":"Faculty of Medicine Hebrew University  Jerusalem Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2022,6,5]]},"reference":[{"issue":"3","key":"e_1_2_11_2_1","first-page":"195","article-title":"A new syndrome combining developmental anomalies of the eyelids, eyebrows and nose root with pigmentary defects of the iris and head hair and with congenital deafness","volume":"3","author":"Waardenburg PJ","year":"1951","journal-title":"Am J Hum Genet"},{"issue":"3","key":"e_1_2_11_3_1","first-page":"336","article-title":"Albinisme partiel (leucisme) accompagne de surdimutite, d'osteomyodysplasie, de raideurs articulaires congenitales multiples et d'autres malformations congenitales","volume":"22","author":"Klein D","year":"1947","journal-title":"Arch Julius Klaus Stift Vererb Forsch"},{"key":"e_1_2_11_4_1","unstructured":"BottaniA AntonarakisSE BlouinJL.PAX3 missense mutations (G99S and R270C) in the original patient described with Klein\u2010Waardenburg (WS3) syndrome. ASHG Annual Meeting;1999. Program Nr: 773."},{"issue":"5","key":"e_1_2_11_5_1","first-page":"1173","article-title":"Homozygosity for Waardenburg syndrome","volume":"56","author":"Zlotogora J","year":"1995","journal-title":"Am J Hum Genet"},{"key":"e_1_2_11_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320590227"},{"key":"e_1_2_11_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.4703"},{"key":"e_1_2_11_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.20260"},{"key":"e_1_2_11_9_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.34.8.656"},{"key":"e_1_2_11_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320110407"},{"key":"e_1_2_11_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320140205"},{"key":"e_1_2_11_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ijporl.2018.08.009"},{"key":"e_1_2_11_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320420312"},{"key":"e_1_2_11_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.61893"},{"key":"e_1_2_11_15_1","doi-asserted-by":"publisher","DOI":"10.1034\/j.1399-0004.2001.600408.x"},{"key":"e_1_2_11_16_1","doi-asserted-by":"publisher","DOI":"10.3389\/fgene.2021.705973"},{"key":"e_1_2_11_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1098-1004(1996)7:1<30::AID-HUMU4>3.0.CO;2-T"},{"key":"e_1_2_11_18_1","first-page":"43","article-title":"Waardenburg's syndrome in Egypt","volume":"25","author":"Mossallam I","year":"1974","journal-title":"Ain Shams Med J"},{"issue":"11","key":"e_1_2_11_19_1","article-title":"Cellular mechanisms underlying Pax3\u2010related neural tube defects and their prevention by folic acid","volume":"12","author":"Sudiwala S","year":"2019","journal-title":"Dis Model Mech"},{"key":"e_1_2_11_20_1","doi-asserted-by":"publisher","DOI":"10.1002\/bdra.23246"}],"container-title":["Clinical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cge.14167","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1111\/cge.14167","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cge.14167","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,23]],"date-time":"2023-08-23T14:21:23Z","timestamp":1692800483000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/cge.14167"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,6,5]]},"references-count":19,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2022,9]]}},"alternative-id":["10.1111\/cge.14167"],"URL":"https:\/\/doi.org\/10.1111\/cge.14167","archive":["Portico"],"relation":{"has-review":[{"id-type":"doi","id":"10.1111\/CGE.14167\/v2\/decision1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.14167\/v2\/review1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.14167\/v1\/review2","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.14167\/v1\/decision1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.14167\/v1\/review1","asserted-by":"object"}]},"ISSN":["0009-9163","1399-0004"],"issn-type":[{"value":"0009-9163","type":"print"},{"value":"1399-0004","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,6,5]]},"assertion":[{"value":"2022-03-28","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-05-19","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-06-05","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}