{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,31]],"date-time":"2026-08-31T10:51:44Z","timestamp":1788173504315,"version":"build-2803163510"},"reference-count":21,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2010,12,10]],"date-time":"2010-12-10T00:00:00Z","timestamp":1291939200000},"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":[[2011,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We report on a female patient with Dandy\u2013Walker malformation possibly caused by heterozygous loss of <jats:italic>ZIC1<\/jats:italic> and <jats:italic>ZIC4<\/jats:italic>. The patient presented with mental retardation, epilepsy, and multiple congenital malformations including spina bifida, mild dysmorphic facial features including, thick eyebrows, broad nose, full lips, macroglossia, and hypoplasia of the cerebellar vermis with enlargement of the fourth ventricle on brain magnetic resonance imaging, which is consistent with Dandy\u2013Walker malformation. A chromosome analysis showed interstitial deletion of chromosome 3q23\u2010q25.1. Fluorescence in situ hybridization (FISH) and microarray\u2010based genomic analysis revealed the heterozygous deletion of <jats:italic>ZIC1<\/jats:italic> and <jats:italic>ZIC4<\/jats:italic> loci on 3q24. Her facial features were not consistent with those observed in blepharophimosis\u2013ptosis\u2013epicanthus inversus syndrome (BPES) involving <jats:italic>FOXL2<\/jats:italic> abnormality. Other deleted genes at 3q23\u201025.1 might contribute to the dysmorphic facial appearance. A milder phenotype as the Dandy\u2013Walker malformation in our patient supports the idea that modifying loci\/genes can influence the development of cerebellar malformation. \u00a9 2010 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.33652","type":"journal-article","created":{"date-parts":[[2010,12,10]],"date-time":"2010-12-10T20:02:28Z","timestamp":1292011348000},"page":"130-133","source":"Crossref","is-referenced-by-count":26,"title":["Dandy\u2013Walker malformation associated with heterozygous <i>ZIC1<\/i> and <i>ZIC4<\/i> deletion: Report of a new patient"],"prefix":"10.1002","volume":"155","author":[{"given":"Jun","family":"Tohyama","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mitsuhiro","family":"Kato","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sari","family":"Kawasaki","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Naoki","family":"Harada","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hiroki","family":"Kawara","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Takeshi","family":"Matsui","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Noriyuki","family":"Akasaka","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tsukasa","family":"Ohashi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yu","family":"Kobayashi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Naomichi","family":"Matsumoto","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2010,12,10]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.422"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320270406"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00207381"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1471-4159.1994.63051880.x"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.271.2.1043"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1523\/JNEUROSCI.18-01-00284.1998"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1006\/dbio.2002.0598"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320520404"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/84781"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30573"},{"key":"e_1_2_5_12_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00289488"},{"key":"e_1_2_5_13_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2005.00418.x"},{"key":"e_1_2_5_14_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1420"},{"key":"e_1_2_5_15_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.22.8.771"},{"key":"e_1_2_5_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320470411"},{"key":"e_1_2_5_17_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-008-0467-y"},{"key":"e_1_2_5_18_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1985.tb00401.x"},{"key":"e_1_2_5_19_1","doi-asserted-by":"publisher","DOI":"10.1158\/0008-5472.CAN-05-0465"},{"key":"e_1_2_5_20_1","doi-asserted-by":"publisher","DOI":"10.1023\/A:1012235510600"},{"key":"e_1_2_5_21_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2003.08.010"},{"key":"e_1_2_5_22_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.26.7.434"}],"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.33652","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.33652","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,18]],"date-time":"2023-10-18T18:20:09Z","timestamp":1697653209000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.33652"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2010,12,10]]},"references-count":21,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2011,1]]}},"alternative-id":["10.1002\/ajmg.a.33652"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.33652","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2010,12,10]]}}}