{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,26]],"date-time":"2025-10-26T15:10:27Z","timestamp":1761491427552,"version":"3.41.2"},"reference-count":23,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2022,6,23]],"date-time":"2022-06-23T00:00:00Z","timestamp":1655942400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp;amp; Gen Med"],"published-print":{"date-parts":[[2022,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>A range of clinical features have been confirmed with heterozygous mutations in Beta Tubulin (<jats:italic>TUBB<\/jats:italic>), including skin creases, facial deformities, abnormal cerebral structures, and intellectual disability, and were defined as Circumferential Skin Creases Kunze type (CSC\u2010KT).<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Clinical information was obtained retrospectively on a neonate hospitalized in the Neonatal Intensive Care Unit, Wuhan Children\u2019s Hospital. Genomic DNA was extracted from circulating leukocytes of the proband according to standard procedures.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>The neonate presented dyspnea resulting from diaphragmatic paralysis, accompanied by other typical features of CSC\u2010KT. Additionally, exome sequencing confirmed a new variant (NM_178,014. 4: c. 1114 A\u2009&gt;\u2009G) in <jats:italic>TUBB<\/jats:italic>. We also summarized features described in previous cases, thus representing phenotype extension of CSC\u2010KT.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Our report is the youngest confirmed case, which could extend the current phenotype of CSC\u2010KT as well as the clinical diagnostic approach.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.2003","type":"journal-article","created":{"date-parts":[[2022,6,24]],"date-time":"2022-06-24T06:35:25Z","timestamp":1656052525000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Diaphragmatic paralysis in a neonate with circumferential skin creases Kunze type"],"prefix":"10.1002","volume":"10","author":[{"given":"Gao","family":"Chun Fang","sequence":"first","affiliation":[{"name":"Department of Neonatology Wuhan Children's Hospital of Tongji Medical College, Huazhong University of Science &amp; Technology  Wuhan China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ding","family":"Kaiwei","sequence":"additional","affiliation":[{"name":"Department of Neonatology Wuhan Children's Hospital of Tongji Medical College, Huazhong University of Science &amp; Technology  Wuhan China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zeng","family":"Lingkong","sequence":"additional","affiliation":[{"name":"Department of Neonatology Wuhan Children's Hospital of Tongji Medical College, Huazhong University of Science &amp; Technology  Wuhan China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8178-813X","authenticated-orcid":false,"given":"Tao","family":"Xuwei","sequence":"additional","affiliation":[{"name":"Department of Neonatology Wuhan Children's Hospital of Tongji Medical College, Huazhong University of Science &amp; Technology  Wuhan China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2022,6,23]]},"reference":[{"key":"e_1_2_11_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.celrep.2012.11.017"},{"key":"e_1_2_11_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.mcn.2017.03.002"},{"key":"e_1_2_11_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0896-6273(03)00633-0"},{"key":"e_1_2_11_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.13232"},{"key":"e_1_2_11_6_1","doi-asserted-by":"publisher","DOI":"10.1186\/2051-5960-2-69"},{"key":"e_1_2_11_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/mgg3.1096"},{"key":"e_1_2_11_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ppul.24383"},{"issue":"17","key":"e_1_2_11_9_1","first-page":"4000","article-title":"The microtubule end\u2010binding protein EB2 is a central regulator of microtubule reorganisation in apico\u2010basal epithelial differentiation","volume":"126","author":"Goldspink D. 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