{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T11:30:58Z","timestamp":1790767858418,"version":"4.1.0"},"reference-count":34,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2012,2,3]],"date-time":"2012-02-03T00:00:00Z","timestamp":1328227200000},"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":[[2012,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Townes\u2013Brocks syndrome (TBS) is a well\u2010described genetic syndrome characterized by anal, ear, and thumb anomalies and variable expressivity. Over 60 nonsense and frameshift mutations have been identified in <jats:italic>SALL1,<\/jats:italic> the zinc finger transcription factor causing TBS, and are proposed to cause disease via a dominant negative mechanism. In contrast, only four deletions have been described, with mild phenotypes reported as a result of haploinsufficiency. We report on a family with features of TBS in whom a novel 149\u2009kb deletion spanning the <jats:italic>SALL1<\/jats:italic> gene was identified by high resolution cytogenetics SNP microarray. We review the available genotype\u2013phenotype information for all known truncating mutations and deletions. Taken together, they do not support the correlation of <jats:italic>SALL1<\/jats:italic> deletions with a milder TBS phenotype and highlight a need for more robust clinical phenotyping combined with investigation of mutational mechanism. \u00a9 2012 Wiley Periodicals, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.34426","type":"journal-article","created":{"date-parts":[[2012,2,3]],"date-time":"2012-02-03T18:34:48Z","timestamp":1328294088000},"page":"533-540","source":"Crossref","is-referenced-by-count":33,"title":["Implications for genotype\u2013phenotype predictions in Townes\u2013Brocks syndrome: Case report of a novel <i>SALL1<\/i> deletion and review of the literature"],"prefix":"10.1002","volume":"158A","author":[{"given":"Erin M.","family":"Miller","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robert","family":"Hopkin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Liming","family":"Bao","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stephanie M.","family":"Ware","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2012,2,3]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.20484"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1186\/1471-2350-10-137"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1080\/13816810802354224"},{"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":"10.1002\/humu.9396"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.9476"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.9362"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.3345\/kjp.2010.53.12.1018"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.10485"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.37.6.458"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1093\/ndt\/gfp014"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32097"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2009.066027"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1097\/00125817-200107000-00007"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddg233"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20759"},{"key":"e_1_2_6_18_1","doi-asserted-by":"publisher","DOI":"10.1002\/1098-1004(200012)16:6<460::AID-HUMU2>3.0.CO;2-4"},{"key":"e_1_2_6_19_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.40.11.e127"},{"key":"e_1_2_6_20_1","doi-asserted-by":"publisher","DOI":"10.1086\/302238"},{"key":"e_1_2_6_21_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0198-81"},{"key":"e_1_2_6_22_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31700"},{"key":"e_1_2_6_23_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(78)80518-6"},{"key":"e_1_2_6_24_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1098-1004(199911)14:5<377::AID-HUMU3>3.0.CO;2-A"},{"key":"e_1_2_6_25_1","doi-asserted-by":"publisher","DOI":"10.1261\/rna.2401811"},{"key":"e_1_2_6_26_1","doi-asserted-by":"publisher","DOI":"10.1242\/dev.128.16.3105"},{"key":"e_1_2_6_27_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31699"},{"key":"e_1_2_6_28_1","doi-asserted-by":"publisher","DOI":"10.1007\/s004670050006"},{"key":"e_1_2_6_29_1","doi-asserted-by":"publisher","DOI":"10.1038\/jhg.2010.64"},{"key":"e_1_2_6_30_1","doi-asserted-by":"publisher","DOI":"10.1002\/1096-8628(20010815)102:3<250::AID-AJMG1479>3.0.CO;2-Q"},{"key":"e_1_2_6_31_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M209066200"},{"key":"e_1_2_6_32_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(72)80302-0"},{"key":"e_1_2_6_33_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2009.09.001"},{"key":"e_1_2_6_34_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32738"},{"key":"e_1_2_6_35_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31136"}],"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.34426","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.34426","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,11,21]],"date-time":"2023-11-21T12:01:31Z","timestamp":1700568091000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.34426"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012,2,3]]},"references-count":34,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2012,3]]}},"alternative-id":["10.1002\/ajmg.a.34426"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.34426","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2012,2,3]]}}}