{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,11]],"date-time":"2026-07-11T02:26:32Z","timestamp":1783736792402,"version":"3.55.0"},"reference-count":26,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2009,9,24]],"date-time":"2009-09-24T00:00:00Z","timestamp":1253750400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2009,10]]},"abstract":"<jats:p>The Keratitis\u2010Ichthyosis\u2010Deafness syndrome (KIDS) is an autosomal dominant ectodermal dysplasia characterized by ocular, skin, and ear anomalies, including keratitis, palmoplantar keratoderma, and congenital hearing loss. Most cases are due to mutations in the <jats:italic>GJB2<\/jats:italic> gene encoding connexin 26. The Dandy\u2010Walker malformation (DWM) is a developmental anomaly of the midline of the cerebellum with complete or partial agenesis of the vermis and cystic dilatation of the fourth ventricle. The association of KID syndrome with DWM has been reported a few times, but thought to be coincidental.<\/jats:p><jats:p>We report 4 additional patients with KIDS and DWM, supporting the possibility that this is an association and not a coincidental finding. This also suggests that the <jats:italic>GJB2<\/jats:italic> gene may have a role in other cases with DWM of, as yet, unknown etiology.<\/jats:p>","DOI":"10.1111\/j.1399-0004.2009.01211.x","type":"journal-article","created":{"date-parts":[[2009,9,25]],"date-time":"2009-09-25T13:02:21Z","timestamp":1253883741000},"page":"404-408","source":"Crossref","is-referenced-by-count":17,"title":["Dandy\u2010Walker malformation in patients with KID syndrome associated with a heterozygote mutation (p.Asp50Asn) in the <i>GJB2<\/i> gene encoding connexin 26"],"prefix":"10.1111","volume":"76","author":[{"given":"Ingo","family":"Todt","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Juliette","family":"Mazereeuw\u2010Hautier","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Barbara","family":"Binder","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patrick J.","family":"Willems","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2009,9,24]]},"reference":[{"key":"e_1_2_5_2_2","doi-asserted-by":"publisher","DOI":"10.1001\/archpedi.1914.02180010416002"},{"key":"e_1_2_5_3_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2003.08.010"},{"key":"e_1_2_5_4_2","doi-asserted-by":"publisher","DOI":"10.1159\/000120942"},{"key":"e_1_2_5_5_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320520404"},{"key":"e_1_2_5_6_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng1420"},{"key":"e_1_2_5_7_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.10659"},{"key":"e_1_2_5_8_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2133.2007.07806.x"},{"key":"e_1_2_5_9_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1525-1470.1996.tb01414.x"},{"key":"e_1_2_5_10_2","doi-asserted-by":"publisher","DOI":"10.1086\/339986"},{"key":"e_1_2_5_11_2","doi-asserted-by":"publisher","DOI":"10.1046\/j.1523-1747.2002.01735.x"},{"key":"e_1_2_5_12_2","doi-asserted-by":"publisher","DOI":"10.1034\/j.1600-0625.2000.009002077.x"},{"key":"e_1_2_5_13_2","doi-asserted-by":"publisher","DOI":"10.1086\/318803"},{"key":"e_1_2_5_14_2","doi-asserted-by":"publisher","DOI":"10.3109\/01677068709102333"},{"key":"e_1_2_5_15_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-4362.1988.tb01266.x"},{"key":"e_1_2_5_16_2","first-page":"99","article-title":"KID syndrome, pachydermatoglyphy and Dandy\u2010Walker syndrome","volume":"121","author":"Boudghene\u2010Stambouli O","year":"1994","journal-title":"Ann Dermatol Venereol"},{"key":"e_1_2_5_17_2","doi-asserted-by":"publisher","DOI":"10.1080\/00015550410024148"},{"key":"e_1_2_5_18_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1468-3083.2006.02001.x"},{"key":"e_1_2_5_19_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2230.2008.02934.x"},{"key":"e_1_2_5_20_2","first-page":"81","article-title":"What syndrome is this? KID syndrome (keratitis, ichthyosis, deafness)","volume":"23","author":"Lenane P","year":"2006","journal-title":"Pediatr Dermatol"},{"key":"e_1_2_5_21_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1610-0378.2005.04748.x"},{"key":"e_1_2_5_22_2","doi-asserted-by":"publisher","DOI":"10.1159\/000093110"},{"key":"e_1_2_5_23_2","doi-asserted-by":"publisher","DOI":"10.1038\/nature06063"},{"key":"e_1_2_5_24_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbamem.2005.09.005"},{"key":"e_1_2_5_25_2","doi-asserted-by":"publisher","DOI":"10.1097\/01.mlg.0000241944.77192.d2"},{"key":"e_1_2_5_26_2","doi-asserted-by":"publisher","DOI":"10.1152\/ajpcell.00626.2006"},{"key":"e_1_2_5_27_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0014-5793(02)03755-9"}],"container-title":["Clinical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fj.1399-0004.2009.01211.x","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/j.1399-0004.2009.01211.x","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,29]],"date-time":"2023-09-29T06:07:11Z","timestamp":1695967631000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/j.1399-0004.2009.01211.x"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2009,9,24]]},"references-count":26,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2009,10]]}},"alternative-id":["10.1111\/j.1399-0004.2009.01211.x"],"URL":"https:\/\/doi.org\/10.1111\/j.1399-0004.2009.01211.x","archive":["Portico"],"relation":{},"ISSN":["0009-9163","1399-0004"],"issn-type":[{"value":"0009-9163","type":"print"},{"value":"1399-0004","type":"electronic"}],"subject":[],"published":{"date-parts":[[2009,9,24]]}}}