{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,23]],"date-time":"2026-10-23T12:49:57Z","timestamp":1792759797264,"version":"4.5.0"},"reference-count":11,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2023,11,22]],"date-time":"2023-11-22T00:00:00Z","timestamp":1700611200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2024,3]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    We report the case of a 12\u2010year\u2010old girl and her father who both had marked postnatal tall stature, camptodactyly and clinodactyly, scoliosis and juvenile\u2010onset hearing loss. The CATSHL (CAmptodactyly \u2013 Tall stature \u2013 Scoliosis \u2013 Hearing Loss syndrome) syndrome was suspected, and molecular analysis revealed a hitherto unreported, monoallelic variant c.1861C&gt;T (p.Arg621Cys) in\n                    <jats:italic>FGFR3<\/jats:italic>\n                    . This variant affects the same residue, but is different than, the variant p.Arg621His reported in the two families with dominant CATSHL described so far. Interestingly, peg\u2010shaped incisors were observed in the proband, a feature never reported in CATSHL but typical of another\n                    <jats:italic>FGFR3<\/jats:italic>\n                    \u2010related condition, LADD (Lacrimo \u2013 Auricolo \u2013 Dento \u2013 Digital) syndrome. The\n                    <jats:italic>FGFR3<\/jats:italic>\n                    p.Arg621Cys variant seems to be a newly identified cause of CATSHL syndrome with some phenotypic overlap with the LADD syndrome.\n                  <\/jats:p>","DOI":"10.1111\/cge.14455","type":"journal-article","created":{"date-parts":[[2023,11,22]],"date-time":"2023-11-22T09:20:03Z","timestamp":1700644803000},"page":"313-316","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["<scp>CATSHL<\/scp>\n                    syndrome, a new family and phenotypic expansion"],"prefix":"10.1111","volume":"105","author":[{"given":"Silvia","family":"Cannova","sequence":"first","affiliation":[{"name":"Universit\u00e0 degli Studi di Milano  Milano Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Camilla","family":"Meossi","sequence":"additional","affiliation":[{"name":"Fondazione IRCCS C\u00e0 Granda Ospedale Maggiore Policlinico  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Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2023,11,22]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1086\/508433"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/s0092\u20108674(00)81069\u20107"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.37676"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0496\u2010390"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.7150\/thno.45286"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22597"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/0002\u20109394(67)90043\u20108"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/s0022\u20103476(73)80268\u20109"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.tripleo.2008.07.019"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.4103\/1319\u20104534.337856"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1757"}],"container-title":["Clinical 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