{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,17]],"date-time":"2026-09-17T17:52:11Z","timestamp":1789667531688,"version":"4.0.1"},"reference-count":18,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2022,12,15]],"date-time":"2022-12-15T00:00:00Z","timestamp":1671062400000},"content-version":"vor","delay-in-days":14,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Case Reports"],"published-print":{"date-parts":[[2022,12]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Zhu\u2010Tokita\u2010Tachenouchi\u2010Kim syndrome (ZTTK) is a recently recognized malformation syndrome presenting with craniofacial dysmorphism, developmental delay\/intellectual disability, seizures, anomalies involving brain white matter, and other body\u2010organs. In humans, the disorder is linked to the loss\u2010of\u2010function variants in the\n                    <jats:italic>SON<\/jats:italic>\n                    gene (MIM# 617140). Herewith, a new case of this syndrome is reported in a 2\u2010year\u2010old Caucasian child who presented the classical clinical features of the ZTTK syndrome in association with hydrocephalus and Chiari malformations type 1 an anomaly previously unreported. Exome analysis showed a de novo heterozygous variant in SON gene. Literature review of similar cases is reported.\n                  <\/jats:p>","DOI":"10.1002\/ccr3.6529","type":"journal-article","created":{"date-parts":[[2022,12,16]],"date-time":"2022-12-16T01:11:06Z","timestamp":1671153066000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Novel malformations: Chiari type 1 and hydrocephalus in\n                    <scp>Zhu\u2010Tokita\u2010Takenouchi\u2010Kim<\/scp>\n                    syndrome and novel\n                    <scp>\n                      <i>SON<\/i>\n                    <\/scp>\n                    variants"],"prefix":"10.1002","volume":"10","author":[{"given":"Piero","family":"Pavone","sequence":"first","affiliation":[{"name":"Unit of Clinical Pediatrics, AOU \"Policlinico\", PO \"G. Rodolico\" University of Catania  Catania Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Federica","family":"Saia","sequence":"additional","affiliation":[{"name":"Child and Adolescent Neurology and Psichiatry, Department of Clinical and Experimental Medicine Catania University  Catania Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xena","family":"Pappalardo","sequence":"additional","affiliation":[{"name":"Unit of Catania, Institute for Biomedical Research and Innovation National Council of Research  Catania Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Massimo","family":"Barbagallo","sequence":"additional","affiliation":[{"name":"Unit of Pediatrics and Pediatrics Emergency Hospital \"G. Garibaldi\"  Catania Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1083-7915","authenticated-orcid":false,"given":"Adriana","family":"Prato","sequence":"additional","affiliation":[{"name":"Child and Adolescent Neurology and Psichiatry, Department of Clinical and Experimental Medicine Catania University  Catania Italy"},{"name":"Department of Cognitive Sciences, Psychology, Education and Cultural Studies University of Messina  Messina Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Renata","family":"Rizzo","sequence":"additional","affiliation":[{"name":"Child and Adolescent Neurology and Psichiatry, Department of Clinical and Experimental Medicine Catania University  Catania Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2022,12,15]]},"reference":[{"key":"e_1_2_11_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2014.191"},{"key":"e_1_2_11_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2016.06.029"},{"key":"e_1_2_11_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.37761"},{"key":"e_1_2_11_5_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M112.447227"},{"key":"e_1_2_11_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/wrna.1235"},{"key":"e_1_2_11_7_1","doi-asserted-by":"publisher","DOI":"10.1091\/mbc.e09-02-0126"},{"key":"e_1_2_11_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2016.06.035"},{"key":"e_1_2_11_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41431-021-00960-4"},{"key":"e_1_2_11_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.62445"},{"key":"e_1_2_11_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/0471250953.bi1112s47"},{"key":"e_1_2_11_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/mgg3.953"},{"key":"e_1_2_11_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.62057"},{"key":"e_1_2_11_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/jcla.23326"},{"key":"e_1_2_11_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/mgg3.1496"},{"key":"e_1_2_11_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/mgg3.1432"},{"key":"e_1_2_11_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.kint.2019.01.025"},{"key":"e_1_2_11_18_1","doi-asserted-by":"publisher","DOI":"10.1111\/pde.14113"},{"key":"e_1_2_11_19_1","doi-asserted-by":"publisher","DOI":"10.1002\/jdn.10170"}],"container-title":["Clinical Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ccr3.6529","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/ccr3.6529","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ccr3.6529","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,11,28]],"date-time":"2025-11-28T05:01:53Z","timestamp":1764306113000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ccr3.6529"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,12]]},"references-count":18,"journal-issue":{"issue":"12","published-print":{"date-parts":[[2022,12]]}},"alternative-id":["10.1002\/ccr3.6529"],"URL":"https:\/\/doi.org\/10.1002\/ccr3.6529","archive":["Portico"],"relation":{},"ISSN":["2050-0904","2050-0904"],"issn-type":[{"value":"2050-0904","type":"print"},{"value":"2050-0904","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,12]]},"assertion":[{"value":"2022-07-09","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-10-15","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-12-15","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e6529"}}