{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,30]],"date-time":"2026-03-30T16:09:07Z","timestamp":1774886947457,"version":"3.50.1"},"reference-count":18,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2025,7,24]],"date-time":"2025-07-24T00:00:00Z","timestamp":1753315200000},"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":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2025,12]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    Waardenburg syndrome (WS) is a genetically heterogeneous auditory\u2010pigmentary disorder with multiple genetic loci. We reported 30 Chinese patients from 19 unrelated families with molecularly confirmed WS, either by single\u2010gene testing, gene panel, or research\u2010based whole\u2010genome sequencing. Their clinical phenotypes were reviewed in comparison with other Chinese cohorts in the literature. The overall diagnostic rate in our cohort was 65%. Novel\n                    <jats:italic>PAX3<\/jats:italic>\n                    and\n                    <jats:italic>SOX10<\/jats:italic>\n                    variants were found in seven unrelated families. Our findings were consistent with other Chinese phenotypic studies; however, congenital sensorineural hearing loss was less commonly observed in our cohort. This report highlighted the clinical and genetic heterogeneity among WS patients in our ethnicity.\n                  <\/jats:p>","DOI":"10.1002\/ajmg.a.64193","type":"journal-article","created":{"date-parts":[[2025,7,24]],"date-time":"2025-07-24T07:06:14Z","timestamp":1753340774000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Waardenburg Syndrome: Review of Genotype\u2013Phenotype Relationships in 30 Patients in Hong Kong"],"prefix":"10.1002","volume":"197","author":[{"ORCID":"https:\/\/orcid.org\/0009-0009-5836-4468","authenticated-orcid":false,"given":"Jennifer Y. Y.","family":"Poon","sequence":"first","affiliation":[{"name":"Department of Clinical Genetics Hong Kong Children's Hospital  Kowloon Hong Kong China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0000-2128-1903","authenticated-orcid":false,"given":"W. C.","family":"Yiu","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Hong Kong Children's Hospital  Kowloon Hong Kong China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4239-5752","authenticated-orcid":false,"given":"Stephanie K. L.","family":"Ho","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Hong Kong Children's Hospital  Kowloon Hong Kong China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9923-7424","authenticated-orcid":false,"given":"Shirley Sze Wing","family":"Cheng","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Hong Kong Children's Hospital  Kowloon Hong Kong China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4066-4066","authenticated-orcid":false,"given":"Ho\u2010Ming","family":"Luk","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Hong Kong Children's Hospital  Kowloon Hong Kong China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ivan F. M.","family":"Lo","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Hong Kong Children's Hospital  Kowloon Hong Kong China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2025,7,24]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ijscr.2022.106952"},{"key":"e_1_2_10_3_1","volume-title":"StatPearls","author":"Ahmed Jan N.","year":"2023"},{"issue":"6","key":"e_1_2_10_4_1","first-page":"533","article-title":"Waardenburg\u2010Syndrom. Eine heterogene Erkrankung mit variabler Penetranz","volume":"52","author":"Apaydin F.","year":"2004","journal-title":"Journal for Otorhinolaryngology, Head and Neck Surgery"},{"issue":"5","key":"e_1_2_10_5_1","first-page":"902","article-title":"Waardenburg Syndrome (WS) Type I Is Caused by Defects at Multiple Loci, One of Which Is Near ALPP on Chromosome 2: First Report of the WS Consortium","volume":"50","author":"Farrer L. A.","year":"1992","journal-title":"American Journal of Human Genetics"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/mgg3.2082"},{"key":"e_1_2_10_7_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12920-022-01379-6"},{"key":"e_1_2_10_8_1","volume-title":"GeneReviews","author":"Milunsky J. 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