{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,13]],"date-time":"2026-04-13T06:39:01Z","timestamp":1776062341957,"version":"3.50.1"},"reference-count":12,"publisher":"Elsevier BV","issue":"8","license":[{"start":{"date-parts":[[2022,9,1]],"date-time":"2022-09-01T00:00:00Z","timestamp":1661990400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2022,9,1]],"date-time":"2022-09-01T00:00:00Z","timestamp":1661990400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"content-domain":{"domain":["brainanddevelopment.com","clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Brain and Development"],"published-print":{"date-parts":[[2022,9]]},"DOI":"10.1016\/j.braindev.2022.04.009","type":"journal-article","created":{"date-parts":[[2022,4,30]],"date-time":"2022-04-30T07:38:45Z","timestamp":1651304325000},"page":"571-577","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":4,"title":["A novel ZC4H2 variant in a female with severe respiratory complications"],"prefix":"10.1016","volume":"44","author":[{"given":"Tomohiro","family":"Wakabayashi","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Miyako","family":"Mizukami","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kojiro","family":"Terada","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Aki","family":"Ishikawa","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shiro","family":"Hinotsu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Masaki","family":"Kobayashi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Koji","family":"Kato","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tomoo","family":"Ogi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Takeshi","family":"Tsugawa","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Akihiro","family":"Sakurai","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.braindev.2022.04.009_b0005","doi-asserted-by":"crossref","first-page":"2270","DOI":"10.1002\/humu.23841","article-title":"Deleterious de novo variants of X-linked ZC4H2 in females cause a variable phenotype with neurogenic arthrogryposis multiplex congenita","volume":"40","author":"Frints","year":"2019","journal-title":"Hum Mutat"},{"key":"10.1016\/j.braindev.2022.04.009_b0010","doi-asserted-by":"crossref","first-page":"681","DOI":"10.1016\/j.ajhg.2013.03.021","article-title":"ZC4H2 mutations are associated with arthrogryposis multiplex congenita and intellectual disability through impairment of central and peripheral synaptic plasticity","volume":"92","author":"Hirata","year":"2013","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.braindev.2022.04.009_b0015","doi-asserted-by":"crossref","first-page":"4848","DOI":"10.1093\/hmg\/ddv208","article-title":"ZC4H2, an XLID gene, is required for the generation of a specific subset of CNS interneurons","volume":"24","author":"May","year":"2015","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.braindev.2022.04.009_b0020","doi-asserted-by":"crossref","first-page":"334","DOI":"10.1016\/j.braindev.2017.11.011","article-title":"A severe female case of arthrogryposis multiplex congenita with brain atrophy, spastic quadriplegia and intellectual disability caused by ZC4H2 mutation","volume":"40","author":"Okubo","year":"2018","journal-title":"Brain Dev"},{"key":"10.1016\/j.braindev.2022.04.009_b0025","doi-asserted-by":"crossref","first-page":"1358","DOI":"10.1002\/ajmg.a.38155","article-title":"ZC4H2 deletions can cause severe phenotype in female carriers","volume":"173","author":"Zanzottera","year":"2017","journal-title":"Am J Med Genet A"},{"key":"10.1016\/j.braindev.2022.04.009_b0030","doi-asserted-by":"crossref","first-page":"94","DOI":"10.1177\/000348949009900202","article-title":"Severe otolaryngologic manifestations of arthrogryposis multiplex congenita","volume":"99","author":"Laureano","year":"1990","journal-title":"Ann Otol Rhinol Laryngol"},{"key":"10.1016\/j.braindev.2022.04.009_b0035","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1038\/gim.2015.30","article-title":"Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology","volume":"17","author":"Richards","year":"2015","journal-title":"Genet Med"},{"key":"10.1016\/j.braindev.2022.04.009_b0040","doi-asserted-by":"crossref","first-page":"167","DOI":"10.1002\/ajmg.a.38527","article-title":"Wieacker-Wolff syndrome with associated cleft palate in a female case","volume":"176","author":"Godfrey","year":"2018","journal-title":"Am J Med Genet A"},{"key":"10.1016\/j.braindev.2022.04.009_b0045","doi-asserted-by":"crossref","first-page":"760","DOI":"10.1016\/j.braindev.2018.05.003","article-title":"A novel ZC4H2 gene mutation, K209N, in Japanese siblings with arthrogryposis multiplex congenita and intellectual disability: characterization of the K209N mutation and clinical findings","volume":"40","author":"Kondo","year":"2018","journal-title":"Brain Dev"},{"key":"10.1016\/j.braindev.2022.04.009_b0050","doi-asserted-by":"crossref","first-page":"985","DOI":"10.1111\/ped.14211","article-title":"A case report of rare ZC4H2-associated disorders associated with three large hernias","volume":"62","author":"Nagara","year":"2020","journal-title":"Pediatr Int"},{"key":"10.1016\/j.braindev.2022.04.009_b0055","article-title":"A novel de novo nonsense mutation in ZC4H2 causes Wieacker-Wolff Syndrome","volume":"8","author":"Wang","year":"2020","journal-title":"Mol Genet Genomic Med"},{"key":"10.1016\/j.braindev.2022.04.009_b0060","doi-asserted-by":"crossref","first-page":"304","DOI":"10.1016\/j.jcrc.2016.10.009","article-title":"Evidence-based guidelines for the use of tracheostomy in critically ill patients","volume":"38","author":"Raimondi","year":"2017","journal-title":"J Crit Care"}],"container-title":["Brain and Development"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S038776042200078X?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S038776042200078X?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,8]],"date-time":"2025-10-08T19:51:07Z","timestamp":1759953067000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S038776042200078X"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,9]]},"references-count":12,"journal-issue":{"issue":"8","published-print":{"date-parts":[[2022,9]]}},"alternative-id":["S038776042200078X"],"URL":"https:\/\/doi.org\/10.1016\/j.braindev.2022.04.009","relation":{},"ISSN":["0387-7604"],"issn-type":[{"value":"0387-7604","type":"print"}],"subject":[],"published":{"date-parts":[[2022,9]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"A novel ZC4H2 variant in a female with severe respiratory complications","name":"articletitle","label":"Article Title"},{"value":"Brain and Development","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.braindev.2022.04.009","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2022 The Japanese Society of Child Neurology Published by Elsevier B.V. All rights reserved.","name":"copyright","label":"Copyright"}]}}