{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,3]],"date-time":"2025-11-03T13:22:13Z","timestamp":1762176133653},"reference-count":15,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2007,4,12]],"date-time":"2007-04-12T00:00:00Z","timestamp":1176336000000},"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":[[2007,5,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We report on wide phenotypic variations within a family with <jats:italic>SALL1<\/jats:italic> mutations; the elder sister presented with a Townes\u2013Brocks syndrome phenotype including external ear anomalies, preaxial polydactyly, and anteriorly placed anus, whereas the younger sister presented with a phenotype resembling Goldenhar syndrome, including atretic ear canals, mandibular hypoplasia, and right preaxial polydactyly as well as an epibulbar dermoid. The mother had abnormal external ears but was otherwise structurally normal, and the father was asymptomatic. Analysis of the <jats:italic>SALL1<\/jats:italic> gene revealed that both daughters were heterozygous for nonsense mutation 1256T&gt;A (L419X), that is present 5' to the region encoding the first double zinc finger. The mother was heterozygous for the L419X mutation. The younger daughter is the first patient with a <jats:italic>SALL1<\/jats:italic> mutation to exhibit a classic Goldenhar syndrome\u2010like phenotype with an epibulbar dermoid. The observation lends further support to the concept that Goldenhar syndrome is an etiologically heterogeneous disorder that may have a genetic basis in some cases. \u00a9 2007 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.31700","type":"journal-article","created":{"date-parts":[[2007,4,13]],"date-time":"2007-04-13T01:51:19Z","timestamp":1176429079000},"page":"1087-1090","source":"Crossref","is-referenced-by-count":23,"title":["Wide phenotypic variations within a family with <i>SALL1<\/i> mutations: Isolated external ear abnormalities to Goldenhar syndrome"],"prefix":"10.1002","volume":"143A","author":[{"given":"Rika","family":"Kosaki","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rika","family":"Fujimaru","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hazuki","family":"Samejima","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hiroshi","family":"Yamada","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kosuke","family":"Izumi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kazumoto","family":"Iijima","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kenjiro","family":"Kosaki","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2007,4,12]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31383"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320280115"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.9362"},{"key":"e_1_2_5_5_1","first-page":"459","article-title":"Description of a patient with difficult nosological classification: Goldenhar syndrome or Townes\u2010Brocks syndrome?","volume":"45","author":"Gabrielli O","year":"1993","journal-title":"Minerva Pediatr"},{"key":"e_1_2_5_6_1","first-page":"243","article-title":"Associations malformatives de l'oeil et de l'oreille: En particulier, le syndrome: Dermoide epibulbaire\u2010appendices auriculaires\u2013fistula auris congenita et ses relations avec la dysostose mandibulo\u2010faciale","volume":"1","author":"Goldenhar M","year":"1952","journal-title":"J Genet Hum"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19960111)61:2<134::AID-AJMG6>3.0.CO;2-X"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1097\/01.mcd.0000126138.37196.26"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0198-81"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1086\/302238"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320120403"},{"key":"e_1_2_5_12_1","first-page":"61","article-title":"Hemorrhage in development of the face","volume":"11","author":"Poswillo D","year":"1975","journal-title":"Birth Defects Orig Artic Ser"},{"key":"e_1_2_5_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320150207"},{"key":"e_1_2_5_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(79)80278-4"},{"key":"e_1_2_5_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19980724)78:4<345::AID-AJMG8>3.0.CO;2-K"},{"key":"e_1_2_5_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(72)80302-0"}],"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.31700","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.31700","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,18]],"date-time":"2023-10-18T04:31:39Z","timestamp":1697603499000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.31700"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2007,4,12]]},"references-count":15,"journal-issue":{"issue":"10","published-print":{"date-parts":[[2007,5,15]]}},"alternative-id":["10.1002\/ajmg.a.31700"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.31700","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2007,4,12]]}}}