{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,12]],"date-time":"2026-10-12T17:11:37Z","timestamp":1791825097856,"version":"4.3.4"},"reference-count":18,"publisher":"Wiley","issue":"21","license":[{"start":{"date-parts":[[2007,10,1]],"date-time":"2007-10-01T00:00:00Z","timestamp":1191196800000},"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":[[2007,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Though uncommon, kidney malformations are described in several cases of Townes\u2013Brocks syndrome. By contrast, kidney failure has been reported as the presenting feature of Townes\u2013Brocks syndrome on only one occasion. While the<jats:italic>SALL1<\/jats:italic>gene, mutations of which result in the Townes\u2013Brocks phenotype, is expressed in the developing kidney, the absence of other corroborative reports of kidney failure presenting in affected individuals suggests that the solitary observation of kidney failure is as likely due to chance as to causal association. In now reporting a further instance of this association, we review the literature, demonstrating that several other instances of kidney failure are in fact known, despite an incomplete dataset. These findings suggest that kidney failure may be a constituent element of the natural history of Townes\u2013Brocks syndrome and raise the possible benefits of longitudinal survey for progressive kidney impairment in patients with this syndrome. \u00a9 2007 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.31699","type":"journal-article","created":{"date-parts":[[2007,10,1]],"date-time":"2007-10-01T21:18:26Z","timestamp":1191273506000},"page":"2588-2591","source":"Crossref","is-referenced-by-count":15,"title":["Kidney failure in Townes\u2013Brocks syndrome: An under recognized phenomenon?"],"prefix":"10.1002","volume":"143A","author":[{"given":"William","family":"Reardon","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Liam F.","family":"Casserly","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ralf","family":"Birkenh\u00e4ger","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":[[2007,10]]},"reference":[{"key":"e_1_2_5_2_1","first-page":"104","article-title":"Townes\u2010Brocks syndrome: Report of three additional patients with previously undescribed renal and cardiac malformations","volume":"2","author":"Barakat A","year":"1988","journal-title":"Dysmor Clin Genet"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.37.4.303"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.9396"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.9362"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320410102"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1988.tb02862.x"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.37.6.458"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1177\/000992288602500209"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0198-81"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1086\/302238"},{"key":"e_1_2_5_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320370619"},{"key":"e_1_2_5_13_1","doi-asserted-by":"publisher","DOI":"10.1097\/00019605-199701000-00010"},{"key":"e_1_2_5_14_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.27.7.457"},{"key":"e_1_2_5_15_1","doi-asserted-by":"publisher","DOI":"10.1093\/qjmed\/93.2.99"},{"key":"e_1_2_5_16_1","doi-asserted-by":"publisher","DOI":"10.1177\/01945998941113P103"},{"key":"e_1_2_5_17_1","doi-asserted-by":"crossref","DOI":"10.1093\/oso\/9780195138498.001.0001","volume-title":"Hereditary hearing loss and its syndromes","author":"Toriello HV","year":"2004"},{"key":"e_1_2_5_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(72)80302-0"},{"key":"e_1_2_5_19_1","doi-asserted-by":"publisher","DOI":"10.1681\/ASN.2006030277"}],"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.31699","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.31699","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,2,18]],"date-time":"2024-02-18T08:21:39Z","timestamp":1708244499000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.31699"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2007,10]]},"references-count":18,"journal-issue":{"issue":"21","published-print":{"date-parts":[[2007,11]]}},"alternative-id":["10.1002\/ajmg.a.31699"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.31699","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2007,10]]}}}