{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,15]],"date-time":"2026-10-15T05:29:44Z","timestamp":1792042184514,"version":"4.4.0"},"reference-count":35,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2026,1,19]],"date-time":"2026-01-19T00:00:00Z","timestamp":1768780800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"},{"start":{"date-parts":[[2026,1,19]],"date-time":"2026-01-19T00:00:00Z","timestamp":1768780800000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2026,5]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    Cant\u00fa syndrome (CS) is a rare genetic condition caused by pathogenic variants in either\n                    <jats:italic>ABCC9<\/jats:italic>\n                    or\n                    <jats:italic>KCNJ8<\/jats:italic>\n                    , leading to gain\u2010of\u2010function of K\n                    <jats:sub>ATP<\/jats:sub>\n                    \u2010channels. The main clinical features are hypertrichosis and cardiovascular abnormalities. This study investigates the voice characteristics in individuals with CS, an aspect that has received little attention in previous research. A total of 18 participants with molecular genetically confirmed CS were recruited, 11 females and 7 males, aged 9\u201363\u2009years. Voice pitch analysis was conducted using the Voice Tools application, comparing these findings with normative data from healthy individuals. We show that adult females with CS exhibit voice pitches consistently lower than the normative values, particularly below the bottom quartile, suggesting a distinct impact of the underlying gene defect on the adult female voice phenotype. Conversely, adult males with CS show less noticeable deviations in voice pitch compared to healthy males. Children with CS exhibit a voice pitch closer to normative ranges. Adults with CS exhibit a lower voice pitch than healthy controls, especially evident in females. This study highlights the influence of CS on voice pitch, possibly influenced by anatomical abnormalities in CS such as enlarged craniofacial structures and connective tissue alterations affecting vocal fold mass and pliability.\n                  <\/jats:p>","DOI":"10.1002\/ajmga.70050","type":"journal-article","created":{"date-parts":[[2026,1,19]],"date-time":"2026-01-19T09:39:03Z","timestamp":1768815543000},"page":"1062-1068","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["The Voice of Cant\u00fa: Lower Voice Pitch Is a New Phenotypic Feature of Cant\u00fa Syndrome"],"prefix":"10.1002","volume":"200","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-9106-7478","authenticated-orcid":false,"given":"Lotte","family":"Kleinendorst","sequence":"first","affiliation":[{"name":"Department of Human Genetics, Amsterdam Reproduction &amp; Development Research Institute, Amsterdam UMC University of Amsterdam  Amsterdam the Netherlands"},{"name":"Emma Center for Personalized Medicine, Amsterdam UMC University of Amsterdam  Amsterdam the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Melanie N. S.","family":"Molegraaf","sequence":"additional","affiliation":[{"name":"Department of Human Genetics, Amsterdam Reproduction &amp; Development Research Institute, Amsterdam UMC University of Amsterdam  Amsterdam the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dorothy K.","family":"Grange","sequence":"additional","affiliation":[{"name":"Division of Genetics and Genomic Medicine, Department of Pediatrics Washington University School of Medicine  St. Louis Missouri USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rico N. P. M.","family":"Rinkel","sequence":"additional","affiliation":[{"name":"Department of Otolaryngology Amsterdam University Medical Center  Amsterdam the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mieke M.","family":"van Haelst","sequence":"additional","affiliation":[{"name":"Department of Human Genetics, Amsterdam Reproduction &amp; Development Research Institute, Amsterdam UMC University of Amsterdam  Amsterdam the Netherlands"},{"name":"Emma Center for Personalized Medicine, Amsterdam UMC University of Amsterdam  Amsterdam the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2026,1,19]]},"reference":[{"key":"e_1_2_12_2_1","doi-asserted-by":"publisher","DOI":"10.1177\/02537176211046525"},{"key":"e_1_2_12_3_1","doi-asserted-by":"publisher","DOI":"10.2319\/062717\u2010431.1"},{"key":"e_1_2_12_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jvoice.2022.10.013"},{"key":"e_1_2_12_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2013.09.009"},{"key":"e_1_2_12_6_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00281261"},{"key":"e_1_2_12_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22555"},{"key":"e_1_2_12_8_1","doi-asserted-by":"publisher","DOI":"10.1126\/sciadv.abq2969"},{"key":"e_1_2_12_9_1","volume-title":"GeneReviews((R))","author":"Grange D. K.","year":"1993"},{"key":"e_1_2_12_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.31753"},{"key":"e_1_2_12_11_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00592\u2010012\u20100392\u20103"},{"key":"e_1_2_12_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jvoice.2017.02.019"},{"key":"e_1_2_12_13_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2324"},{"key":"e_1_2_12_14_1","doi-asserted-by":"publisher","DOI":"10.1006\/abbi.1994.1482"},{"key":"e_1_2_12_15_1","doi-asserted-by":"publisher","DOI":"10.1007\/s12020\u2010012\u20109642\u2010y"},{"key":"e_1_2_12_16_1","unstructured":"HPO: Human Phenotype Ontology.\u201cHP:0001609.\u201dRetrieved March 26 2025.https:\/\/hpo.jax.org\/browse\/term\/HP:0001609."},{"key":"e_1_2_12_17_1","doi-asserted-by":"publisher","DOI":"10.7863\/jum.2010.29.7.1023"},{"key":"e_1_2_12_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0194\u201059980070002\u20107"},{"key":"e_1_2_12_19_1","doi-asserted-by":"publisher","DOI":"10.1155\/2016\/6058916"},{"key":"e_1_2_12_20_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jvoice.2017.06.011"},{"key":"e_1_2_12_21_1","doi-asserted-by":"publisher","DOI":"10.1016\/s0002\u20109394(14)71180\u20108"},{"key":"e_1_2_12_22_1","doi-asserted-by":"publisher","DOI":"10.1186\/1471\u20102431\u201014\u2010159"},{"key":"e_1_2_12_23_1","doi-asserted-by":"publisher","DOI":"10.1159\/000263963"},{"key":"e_1_2_12_24_1","doi-asserted-by":"publisher","DOI":"10.1001\/2013.jamaoto.104"},{"key":"e_1_2_12_25_1","doi-asserted-by":"publisher","DOI":"10.1177\/019459988709700406"},{"key":"e_1_2_12_26_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jvoice.2015.04.005"},{"key":"e_1_2_12_27_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1469\u20107580.2000.19610041.x"},{"key":"e_1_2_12_28_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jvoice.2020.09.011"},{"key":"e_1_2_12_29_1","doi-asserted-by":"publisher","DOI":"10.3238\/arztebl.2015.0329"},{"key":"e_1_2_12_30_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33885"},{"key":"e_1_2_12_31_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.yjmcc.2004.11.024"},{"key":"e_1_2_12_32_1","doi-asserted-by":"publisher","DOI":"10.1016\/s0892\u20101997(96)80045\u20102"},{"key":"e_1_2_12_33_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0892\u20101997(89)80003\u20107"},{"key":"e_1_2_12_34_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2012.04.014"},{"key":"e_1_2_12_35_1","doi-asserted-by":"publisher","DOI":"10.3109\/00016489009122529"},{"key":"e_1_2_12_36_1","doi-asserted-by":"publisher","DOI":"10.1186\/s40779\u2010021\u201000338\u2010z"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmga.70050","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/ajmga.70050","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmga.70050","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,8,28]],"date-time":"2026-08-28T04:44:50Z","timestamp":1787892290000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmga.70050"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,1,19]]},"references-count":35,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2026,5]]}},"alternative-id":["10.1002\/ajmga.70050"],"URL":"https:\/\/doi.org\/10.1002\/ajmga.70050","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,1,19]]},"assertion":[{"value":"2025-09-09","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-01-05","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-01-19","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}