{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,2]],"date-time":"2026-09-02T00:13:57Z","timestamp":1788308037794,"version":"build-2803163510"},"reference-count":26,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2006,1,12]],"date-time":"2006-01-12T00:00:00Z","timestamp":1137024000000},"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":[[2006,2]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>The <jats:italic>SALL4<\/jats:italic> gene encodes a putative zinc finger transcription factor and is located on chromosome 20q13.13\u201013.2. Mutations in <jats:italic>SALL4<\/jats:italic> have been identified in patients with Okihiro syndrome, which is characterized by radial ray anomalies associated with a Duane anomaly. Here, we report an unusual family in which affected persons show an extremely variable phenotype consistent with either Okihiro syndrome, hemifacial microsomia, or isolated Duane anomaly. A novel nonsense mutation in the <jats:italic>SALL4<\/jats:italic> gene was detected in all affected family members and obligate carriers. This mutation is located in exon 3, only 29 bp 5\u2032 of the most 3\u2032 intron, and would therefore be expected to escape the nonsense mediated mRNA decay pathway, which might explain the phenotypic variablity and mild degree of limb involvement. \u00a9 2006 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.31060","type":"journal-article","created":{"date-parts":[[2006,1,12]],"date-time":"2006-01-12T21:47:54Z","timestamp":1137102474000},"page":"222-226","source":"Crossref","is-referenced-by-count":24,"title":["A family with features overlapping Okihiro syndrome, hemifacial microsomia and isolated Duane anomaly caused by a novel <i>SALL4<\/i> mutation"],"prefix":"10.1002","volume":"140A","author":[{"given":"Paulien","family":"Terhal","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bernd","family":"R\u00f6sler","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J\u00fcrgen","family":"Kohlhase","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2006,1,12]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1086\/343821"},{"key":"e_1_2_6_3_1","first-page":"638","article-title":"Congenital ophthalmoplegia in oculoauriculovertebral dysplasia in hemifacial microsomia (Goldenhar\u2010Gorlin syndrome). A clinicopathologic study and review of the literature","volume":"26","author":"Aleksic S","year":"1976","journal-title":"Neuron"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/0002-9394(73)91020-9"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.37.4.303"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2004.019901"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2004.019505"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1086\/376436"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00279415"},{"key":"e_1_2_6_10_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_6_11_1","first-page":"621","article-title":"Autosomal dominant Goldenhar syndrome","volume":"18","author":"Godel V","year":"1982","journal-title":"Birth Defects Orig Art Ser"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320220208"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1097\/00125817-200107000-00007"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0198-81"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1086\/302238"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/11.23.2979"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.40.7.473"},{"key":"e_1_2_6_18_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrm1310"},{"key":"e_1_2_6_19_1","first-page":"273","article-title":"Association of Duane retraction syndrome with craniofacial malformations","volume":"1","author":"Miller M","year":"1985","journal-title":"J Craniofac Genet Dev Biol Suppl"},{"key":"e_1_2_6_20_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320120403"},{"key":"e_1_2_6_21_1","first-page":"16","article-title":"Goldenhar's syndrome associated with bilateral Duane's retraction syndrome","volume":"6","author":"Pieroni D","year":"1969","journal-title":"J Pediatr Ophthalmol"},{"key":"e_1_2_6_22_1","doi-asserted-by":"publisher","DOI":"10.1038\/332090a0"},{"key":"e_1_2_6_23_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1982.tb00957.x"},{"key":"e_1_2_6_24_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_6_25_1","first-page":"106","article-title":"Familial Goldenhar syndrome","volume":"5","author":"Summitt R","year":"1969","journal-title":"Birth Defects Orig Art Ser"},{"key":"e_1_2_6_26_1","first-page":"47","article-title":"Familial hemifacial microsomia","volume":"2","author":"Taysi K","year":"1983","journal-title":"Cleft Palate J"},{"key":"e_1_2_6_27_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30321"}],"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.31060","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.31060","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,12]],"date-time":"2023-10-12T22:40:59Z","timestamp":1697150459000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.31060"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2006,1,12]]},"references-count":26,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2006,2]]}},"alternative-id":["10.1002\/ajmg.a.31060"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.31060","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2006,1,12]]}}}