{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,29]],"date-time":"2026-08-29T11:18:52Z","timestamp":1788002332661,"version":"build-2784847793"},"reference-count":16,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2025,2,1]],"date-time":"2025-02-01T00:00:00Z","timestamp":1738368000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2025,2,1]],"date-time":"2025-02-01T00:00:00Z","timestamp":1738368000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2025,1,7]],"date-time":"2025-01-07T00:00:00Z","timestamp":1736208000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["European Journal of Medical Genetics"],"published-print":{"date-parts":[[2025,2]]},"DOI":"10.1016\/j.ejmg.2025.104994","type":"journal-article","created":{"date-parts":[[2025,1,7]],"date-time":"2025-01-07T19:21:26Z","timestamp":1736277686000},"page":"104994","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":1,"special_numbering":"C","title":["A family with an atypical presentation of TBX3-related disorder"],"prefix":"10.1016","volume":"73","author":[{"ORCID":"https:\/\/orcid.org\/0009-0007-5984-4717","authenticated-orcid":false,"given":"Khaled","family":"Osman","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ayman","family":"Asaly","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rana","family":"Halloun","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tamar","family":"Paperna","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shirley","family":"Pollack","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniella","family":"Magen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dov","family":"Tiosano","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karin","family":"Weiss","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.ejmg.2025.104994_bib1","article-title":"A classification of genes involved in normal and delayed male puberty","volume":"25","author":"Akram","year":"2023","journal-title":"Asian J. Androl."},{"key":"10.1016\/j.ejmg.2025.104994_bib2","doi-asserted-by":"crossref","first-page":"1550","DOI":"10.1086\/302417","article-title":"The spectrum of mutations in TBX3: genotype\/Phenotype relationship in ulnar-mammary syndrome","volume":"64","author":"Bamshad","year":"1999","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ejmg.2025.104994_bib3","doi-asserted-by":"crossref","first-page":"311","DOI":"10.1038\/ng0797-311","article-title":"Mutations in human TBX3 alter limb, apocrine and genital development in ulnar-mammary syndrome","volume":"16","author":"Bamshad","year":"1997","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ejmg.2025.104994_bib4","doi-asserted-by":"crossref","first-page":"325","DOI":"10.1002\/(SICI)1096-8628(19961111)65:4<325::AID-AJMG15>3.0.CO;2-W","article-title":"Clinical analysis of a large kindred with the Pallister ulnar-mammary syndrome","volume":"65","author":"Bamshad","year":"1996","journal-title":"Am. J. Med. Genet."},{"key":"10.1016\/j.ejmg.2025.104994_bib5","doi-asserted-by":"crossref","first-page":"343","DOI":"10.1016\/S0969-2126(02)00722-0","article-title":"Structure of the DNA-bound T-box domain of human TBX3, a transcription factor responsible for ulnar-mammary syndrome","volume":"10","author":"Coll","year":"2002","journal-title":"Structure"},{"key":"10.1016\/j.ejmg.2025.104994_bib6","doi-asserted-by":"crossref","first-page":"30","DOI":"10.1186\/s40246-023-00472-w","article-title":"Community data-driven approach to identify pathogenic founder variants for pan-ethnic carrier screening panels","volume":"17","author":"Einhorn","year":"2023","journal-title":"Hum. Genom."},{"key":"10.1016\/j.ejmg.2025.104994_bib7","doi-asserted-by":"crossref","first-page":"1432","DOI":"10.1530\/EC-18-0486","article-title":"Hypogonadotropic hypogonadism and pituitary hypoplasia as recurrent features in Ulnar-Mammary syndrome","volume":"7","author":"Galazzi","year":"2018","journal-title":"Endocr. Connect."},{"key":"10.1016\/j.ejmg.2025.104994_bib8","doi-asserted-by":"crossref","first-page":"105","DOI":"10.1016\/j.canlet.2004.07.051","article-title":"Tbx3 expression is related to apoptosis and cell proliferation in rat bladder both hyperplastic epithelial cells and carcinoma cells","volume":"219","author":"Ito","year":"2005","journal-title":"Cancer Lett."},{"key":"10.1016\/j.ejmg.2025.104994_bib9","doi-asserted-by":"crossref","DOI":"10.1016\/j.gene.2019.144223","article-title":"The roles and regulation of TBX3 in development and disease","volume":"726","author":"Khan","year":"2020","journal-title":"Gene"},{"key":"10.1016\/j.ejmg.2025.104994_bib10","first-page":"247","article-title":"Studies of malformation syndromes in man XXXXII: a pleiotropic dominant mutation affecting skeletal, sexual and apocrine-mammary development","volume":"12","author":"Pallister","year":"1976","journal-title":"Birth Defects Orig. Artic. Ser."},{"key":"10.1016\/j.ejmg.2025.104994_bib11","doi-asserted-by":"crossref","first-page":"2163","DOI":"10.1016\/j.ajhg.2022.10.013","article-title":"Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3\/BP4 criteria","volume":"109","author":"Pejaver","year":"2022","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ejmg.2025.104994_bib12","first-page":"405","article-title":"Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American college of medical genetics and genomics and the association for molecular pathology","volume":"17","author":"Richards","year":"2015","journal-title":"Genet. Med. Off. J. Am. Coll. Med. Genet."},{"key":"10.1016\/j.ejmg.2025.104994_bib13","doi-asserted-by":"crossref","first-page":"365","DOI":"10.1002\/ajmg.10447","article-title":"Novel mutation of TBX3 in a Japanese family with ulnar-mammary syndrome: implication for impaired sex development","volume":"110","author":"Sasaki","year":"2002","journal-title":"Am. J. Med. Genet."},{"key":"10.1016\/j.ejmg.2025.104994_bib14","doi-asserted-by":"crossref","first-page":"160","DOI":"10.1111\/j.1399-0004.1987.tb03347.x","article-title":"The ulnar-mammary syndrome: an autosomal dominant pleiotropic gene","volume":"32","author":"Schinzel","year":"1987","journal-title":"Clin. Genet."},{"key":"10.1016\/j.ejmg.2025.104994_bib15","doi-asserted-by":"crossref","first-page":"213","DOI":"10.1016\/S0003-3995(02)01144-9","article-title":"Haploinsufficiency of TBX3 causes ulnar-mammary syndrome in a large Turkish family","volume":"45","author":"Wollnik","year":"2002","journal-title":"Ann. Genet."},{"key":"10.1016\/j.ejmg.2025.104994_bib16","doi-asserted-by":"crossref","first-page":"4108","DOI":"10.1038\/s41467-024-48173-9","article-title":"Proteostatic reactivation of the developmental transcription factor TBX3 drives BRAF\/MAPK-mediated tumorigenesis","volume":"15","author":"Zhang","year":"2024","journal-title":"Nat. Commun."}],"container-title":["European Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1769721225000011?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1769721225000011?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2026,8,29]],"date-time":"2026-08-29T11:07:22Z","timestamp":1788001642000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1769721225000011"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,2]]},"references-count":16,"alternative-id":["S1769721225000011"],"URL":"https:\/\/doi.org\/10.1016\/j.ejmg.2025.104994","relation":{},"ISSN":["1769-7212"],"issn-type":[{"value":"1769-7212","type":"print"}],"subject":[],"published":{"date-parts":[[2025,2]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"A family with an atypical presentation of TBX3-related disorder","name":"articletitle","label":"Article Title"},{"value":"European Journal of Medical Genetics","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ejmg.2025.104994","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2025 Published by Elsevier Masson SAS.","name":"copyright","label":"Copyright"}],"article-number":"104994"}}