{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T07:23:49Z","timestamp":1791271429261,"version":"4.1.0"},"reference-count":2,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2003,10,6]],"date-time":"2003-10-06T00:00:00Z","timestamp":1065398400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2003,11,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>In 1983 Sommer described a new syndrome in a mother and her infant daughter which was subsequently called the syndrome of craniofacial, hand anomalies and sensorineural deafness. The syndrome consisted of a normal calvarium with a flat facial profile, hypertelorism and small palpebral fissures with an antimongoloid slant, a depressed nasal bridge with a button tip and slitlike nares and a small \u201cpursed\u201d mouth. Profound sensorineural hearing loss and ulnar deviation of the hands with flexion contractures of digits three, four and five was evident. The family had another child, a son, two years after the birth of the index case that had the exact manifestations as his mother and sister. Because of three affected family members in two generations and a phenotype of midfacial anomalies and dystopia canthorum resembling Waardenburg syndrome, a search for mutations in the <jats:italic>PAX3<\/jats:italic> gene was undertaken. A missense mutation in the paired domain of <jats:italic>PAX3<\/jats:italic> (Asn47Lys) was detected. We have provided a 20\u2010year follow\u2010up of a syndrome characterized by craniofacial anomalies, hearing loss and hand deformities and which is caused by a <jats:italic>PAX3<\/jats:italic> missense mutation. \u00a9 2003 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.20501","type":"journal-article","created":{"date-parts":[[2003,10,7]],"date-time":"2003-10-07T08:03:09Z","timestamp":1065513789000},"page":"91-94","source":"Crossref","is-referenced-by-count":20,"title":["Craniofacial\u2010deafness\u2010hand syndrome revisited"],"prefix":"10.1002","volume":"123A","author":[{"given":"Annemarie","family":"Sommer","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dennis W.","family":"Bartholomew","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2003,10,6]]},"reference":[{"key":"e_1_2_4_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1098-1004(1996)7:1<30::AID-HUMU4>3.0.CO;2-T"},{"key":"e_1_2_4_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320150109"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.20501","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.20501","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,13]],"date-time":"2023-09-13T20:14:49Z","timestamp":1694636089000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.20501"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2003,10,6]]},"references-count":2,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2003,11,15]]}},"alternative-id":["10.1002\/ajmg.a.20501"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.20501","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2003,10,6]]}}}