{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,11,16]],"date-time":"2023-11-16T19:10:06Z","timestamp":1700161806457},"reference-count":7,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2003,4,4]],"date-time":"2003-04-04T00:00:00Z","timestamp":1049414400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"G\u00e9nethon Association"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2003,7,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Two sibs from one Lebanese family presented with congenital hearing loss, meatal atresia, preauricular tags and pits, branchial cysts or fistulae, strabismus, difficulty in opening the mouth wide enough, abnormal fifth fingers, somewhat short stature, and learning disability and patchy skin depigmentation in one. Temporal bone abnormalities identified on computed tomography included atresia of the external auditory canal with reduction in size of the middle ear, malformed ossicles, and unilateral internal auditory canal hypoplasia. Hand radiographs showed pointed phalanges of the 5th fingers with osseous erosions. Their father, his sister, and his half\u2010brother had unilateral auricular pits and\/or branchial cysts. Results of all laboratory investigations including sequencing of the <jats:italic>EYA1<\/jats:italic> gene were normal. Differential diagnosis is discussed and the possibility of the report of a new autosomal dominant type of branchiogenic\u2010deafness syndrome with variable expressivity is raised. \u00a9 2003 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.20077","type":"journal-article","created":{"date-parts":[[2003,6,24]],"date-time":"2003-06-24T10:15:25Z","timestamp":1056449725000},"page":"276-282","source":"Crossref","is-referenced-by-count":3,"title":["A new dominant branchiogenic\u2010deafness syndrome with internal auditory canal hypoplasia and abnormal extremities"],"prefix":"10.1002","volume":"120A","author":[{"given":"Andr\u00e9","family":"M\u00e9garban\u00e9","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Simon","family":"Rassi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eliane","family":"Chouery","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Val\u00e9rie","family":"Delague","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gustavo Perez de Nanclares","family":"Leal","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Murielle","family":"Tabet","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Luis","family":"Casta\u00f1o","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jacques","family":"Loiselet","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2003,4,4]]},"reference":[{"key":"e_1_2_4_2_1","volume-title":"POSSUM: Pictures of standard syndromes and undiagnosed malformations","author":"Bankier A.","year":"2001"},{"key":"e_1_2_4_3_1","doi-asserted-by":"publisher","DOI":"10.1097\/00019605-200207000-00001"},{"key":"e_1_2_4_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320580413"},{"key":"e_1_2_4_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(66)80418-3"},{"key":"e_1_2_4_6_1","volume-title":"Hereditary hearing loss and its syndromes","author":"Gorlin RJ","year":"1995"},{"key":"e_1_2_4_7_1","unstructured":"London Dysmorphology Database 2002 Oxford University Press Oxford"},{"key":"e_1_2_4_8_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1983.tb00449.x"}],"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.20077","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.20077","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,11,16]],"date-time":"2023-11-16T18:46:28Z","timestamp":1700160388000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.20077"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2003,4,4]]},"references-count":7,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2003,7,15]]}},"alternative-id":["10.1002\/ajmg.a.20077"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.20077","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2003,4,4]]}}}