{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,2]],"date-time":"2026-09-02T02:17:12Z","timestamp":1788315432835,"version":"build-2803163510"},"reference-count":18,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2026,6,21]],"date-time":"2026-06-21T00:00:00Z","timestamp":1782000000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"},{"start":{"date-parts":[[2026,6,21]],"date-time":"2026-06-21T00:00:00Z","timestamp":1782000000000},"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":["Clinical Genetics"],"published-print":{"date-parts":[[2026,10]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    Cousin syndrome (MIM#260660) is a rare genetic disorder characterized by short stature, pelvi\u2010scapular dysplasia and craniofacial dysmorphism, due to biallelic pathogenic variants in the\n                    <jats:italic>TBX15<\/jats:italic>\n                    gene. So far, only six molecularly confirmed cases have been reported in the literature. Herein, we report three novel individuals from two unrelated families carrying homozygous novel variants in the\n                    <jats:italic>TBX15<\/jats:italic>\n                    gene causing Cousin syndrome with detailed phenotypic description. We review the literature and discuss differential diagnoses. This report confirms that Cousin syndrome is a clinically recognizable condition, with typical dysmorphic features, short stature, hypoplastic scapula and iliac wings, a high prevalence of hip dislocation and humero\u2010radial synostosis, transmission deafness and strabismus. More case descriptions are needed to precise the prevalence of intellectual disability in this condition, a feature that seems strikingly variable among reports.\n                  <\/jats:p>","DOI":"10.1111\/cge.70198","type":"journal-article","created":{"date-parts":[[2026,6,22]],"date-time":"2026-06-22T02:39:01Z","timestamp":1782095941000},"page":"480-486","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Cousin Syndrome Due to\n                    <scp>\n                      <i>TBX15<\/i>\n                    <\/scp>\n                    Gene Variants: Three Novel Cases and Review of the Literature"],"prefix":"10.1111","volume":"110","author":[{"ORCID":"https:\/\/orcid.org\/0009-0003-3846-3836","authenticated-orcid":false,"given":"Wafaa","family":"Alharbi","sequence":"first","affiliation":[{"name":"Department of Medical Genetics and Molecular Pathology, Pathology and Clinical Laboratory Medicine Administration King Fahad Medical City  Riyadh Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9172-712X","authenticated-orcid":false,"given":"Abdul A.","family":"Peer\u2010Zada","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics and Molecular Pathology, Pathology and Clinical Laboratory Medicine Administration King Fahad Medical City  Riyadh Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Abeer S.","family":"Alaqidi","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics and Molecular Pathology, Pathology and Clinical Laboratory Medicine Administration King Fahad Medical City  Riyadh Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Corinne","family":"Collet","sequence":"additional","affiliation":[{"name":"H\u00f4pital Necker\u2010Enfants Malades Universit\u00e9 Paris Cit\u00e9  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Capucine","family":"Coulon","sequence":"additional","affiliation":[{"name":"Department of Obstetrics Univ. Lille, CHU Lille  Lille France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aziza","family":"Mushiba","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics and Molecular Pathology, Pathology and Clinical Laboratory Medicine Administration King Fahad Medical City  Riyadh Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1368-1023","authenticated-orcid":false,"given":"Florence","family":"Petit","sequence":"additional","affiliation":[{"name":"ULR7364 RADEME Univ. Lille, CHU Lille  Lille France"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2026,6,21]]},"reference":[{"issue":"3","key":"e_1_2_9_2_1","first-page":"173","article-title":"Familial Pelvi\u2010Scapulary Dysplasia With Anomalies of the Epiphyses, Dwarfism and Dysmorphy: A New Syndrome? (Author's Transl)","volume":"39","author":"Cousin J.","year":"1982","journal-title":"Archives Fran\u00e7aises de P\u00e9diatrie"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2008.10.011"},{"issue":"1","key":"e_1_2_9_4_1","first-page":"39","article-title":"Genetical and Development Studies on Droopy\u2010Eared Mice","volume":"7","author":"Curry G. A.","year":"1959","journal-title":"Journal of Embryology and Experimental Morphology"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1006\/geno.1998.5278"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.36173"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaapos.2025.104641"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.64195"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkr245"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/1096-8628(20001218)95:5<507::AID-AJMG17>3.0.CO;2-E"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/1096\u20108628(20001218)95:5<496::aid\u2010ajmg16>3.0.co;2\u2010e"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31612"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.1038\/372525a0"},{"issue":"2","key":"e_1_2_9_14_1","first-page":"397","article-title":"Trapezoidocephaly, Midfacial Hypoplasia and Cartilage Abnormalities With Multiple Synostoses and Skeletal Fractures","volume":"11","author":"Antley R.","year":"1975","journal-title":"Birth Defects Original Article Series"},{"key":"e_1_2_9_15_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.70023"},{"key":"e_1_2_9_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.24473"},{"key":"e_1_2_9_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.identj.2026.109520"},{"key":"e_1_2_9_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/s0968\u20100004(98)01208\u20100"},{"key":"e_1_2_9_19_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.3664"}],"container-title":["Clinical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cge.70198","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1111\/cge.70198","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cge.70198","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,9,2]],"date-time":"2026-09-02T01:53:55Z","timestamp":1788314035000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/cge.70198"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,6,21]]},"references-count":18,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2026,10]]}},"alternative-id":["10.1111\/cge.70198"],"URL":"https:\/\/doi.org\/10.1111\/cge.70198","archive":["Portico"],"relation":{},"ISSN":["0009-9163","1399-0004"],"issn-type":[{"value":"0009-9163","type":"print"},{"value":"1399-0004","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,6,21]]},"assertion":[{"value":"2026-01-24","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-06-12","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-06-21","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}