{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,15]],"date-time":"2026-05-15T10:53:47Z","timestamp":1778842427621,"version":"3.51.4"},"reference-count":14,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2013,7,25]],"date-time":"2013-07-25T00:00:00Z","timestamp":1374710400000},"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":[[2013,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:label\/><jats:p>Townes\u2013Brocks syndrome is a recognizable variable pattern of malformation caused by mutations to the <jats:italic>SALL1<\/jats:italic> gene located on chromosome 16q12.1. Only three known cases of Townes\u2013Brocks syndrome with proven <jats:italic>SALL1<\/jats:italic> gene mutation and concurrent endocrine abnormalities have been previously documented to our knowledge [Kohlhase et al., 1999; Botzenhart et al., 2005; Choi et al., 2010]. We report on two unrelated patients with Townes\u2013Brocks syndrome who share an identical <jats:italic>SALL1<\/jats:italic> mutation (c.3414_3415delAT), who also have endocrine abnormalities. Patient 1 appears to be the first known case of growth hormone deficiency, and Patient 2 extends the number of documented mutation cases with hypothyroidism to four. We suspect endocrine abnormalities, particularly treatable deficiencies, may be an underappreciated component to Townes\u2013Brocks syndrome. \u00a9 2013 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.36104","type":"journal-article","created":{"date-parts":[[2013,7,25]],"date-time":"2013-07-25T20:41:46Z","timestamp":1374784906000},"page":"2266-2273","source":"Crossref","is-referenced-by-count":4,"title":["Endocrine abnormalities in townes\u2013brocks syndrome"],"prefix":"10.1002","volume":"161","author":[{"given":"Cara","family":"Lawrence","sequence":"first","affiliation":[{"name":"College of Medicine University of Kentucky Lexington Kentucky"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Irene","family":"Hong\u2010McAtee","sequence":"additional","affiliation":[{"name":"Division of Pediatric Endocrinology University of Kentucky Lexington Kentucky"},{"name":"Department of Pediatrics University of Kentucky Lexington Kentucky"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bryan","family":"Hall","sequence":"additional","affiliation":[{"name":"Department of Pediatrics University of Kentucky Lexington Kentucky"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"James","family":"Hartsfield","sequence":"additional","affiliation":[{"name":"College of Medicine University of Kentucky Lexington Kentucky"},{"name":"College of Dentistry University of Kentucky Lexington Kentucky"},{"name":"Department of Microbiology, Immunology, and Molecular Genetics University of Kentucky Lexington Kentucky"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andrew","family":"Rutherford","sequence":"additional","affiliation":[{"name":"Department of Pediatrics University of Kentucky Lexington Kentucky"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tracy","family":"Bonilla","sequence":"additional","affiliation":[{"name":"Department of Pediatrics University of Kentucky Lexington Kentucky"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Carolyn","family":"Bay","sequence":"additional","affiliation":[{"name":"Department of Pediatrics University of Kentucky Lexington Kentucky"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2013,7,25]]},"reference":[{"key":"e_1_2_4_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.9362"},{"key":"e_1_2_4_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.9476"},{"key":"e_1_2_4_4_1","doi-asserted-by":"publisher","DOI":"10.3345\/kjp.2010.53.12.1018"},{"key":"e_1_2_4_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32097"},{"key":"e_1_2_4_6_1","first-page":"140","article-title":"Townes\u2013Brocks syndrome with hypothyroidism. [Case Reports]","volume":"44","author":"Goswami V","year":"2007","journal-title":"Indian Pediatr"},{"key":"e_1_2_4_7_1","first-page":"1993","volume-title":"GeneReviews\u2122 [Internet]","author":"Kohlhase J","year":"2007"},{"key":"e_1_2_4_8_1","doi-asserted-by":"publisher","DOI":"10.1086\/302238"},{"key":"e_1_2_4_9_1","doi-asserted-by":"publisher","DOI":"10.1677\/joe.0.1730437"},{"key":"e_1_2_4_10_1","first-page":"57","article-title":"The Townes\u2013Brocks syndrome in Spain: The epidemiological aspects in a consecutive series of cases","volume":"50","author":"Martinez\u2010Frias ML","year":"1999","journal-title":"An Esp Pediatr"},{"key":"e_1_2_4_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.34426"},{"key":"e_1_2_4_12_1","first-page":"136","article-title":"Townes\u2013Brocks syndrome associated with hypothyroidism in a Korean newborn: A case report","volume":"5","author":"Park SY","year":"2008","journal-title":"J Genet Med"},{"key":"e_1_2_4_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(72)80302-0"},{"key":"e_1_2_4_14_1","doi-asserted-by":"publisher","DOI":"10.1681\/ASN.2006030277"},{"key":"e_1_2_4_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19980526)77:4<330::AID-AJMG15>3.0.CO;2-J"}],"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.36104","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.36104","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.36104","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,24]],"date-time":"2023-09-24T13:53:44Z","timestamp":1695563624000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.36104"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,7,25]]},"references-count":14,"journal-issue":{"issue":"9","published-print":{"date-parts":[[2013,9]]}},"alternative-id":["10.1002\/ajmg.a.36104"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.36104","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2013,7,25]]}}}