{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,8]],"date-time":"2026-06-08T16:58:32Z","timestamp":1780937912002,"version":"3.54.1"},"reference-count":19,"publisher":"S. Karger AG","license":[{"start":{"date-parts":[[2026,3,30]],"date-time":"2026-03-30T00:00:00Z","timestamp":1774828800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2026,3,30]],"date-time":"2026-03-30T00:00:00Z","timestamp":1774828800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Mol Syndromol"],"abstract":"<jats:p>Introduction: Congenital tracheobronchial stenosis (CTBS) is a rare disease of in most cases unknown etiology. In a previous cohort of patients with CTBS, a mosaic variant in the SHH gene was identified. Case Presentation: We hereby report a son (case 1) and his father (case 2) with tracheobronchial malformation. In the severely affected proband, a rare SHH variant (c.376G&gt;A p.[Glu126Lys]) was found, which appeared to be inherited from his father who had a similar clinical phenotype. This variant was found to be de novo in the father. Conclusion: We identified a variant in SHH as a possible cause of familial tracheobronchial malformation. This case underscores a possible association between the SHH gene and trachea development. Notably, this variant can present with severe symptoms in infancy, but signs and symptoms may be more attenuated in adulthood.<\/jats:p>","DOI":"10.1159\/000551811","type":"journal-article","created":{"date-parts":[[2026,3,30]],"date-time":"2026-03-30T16:00:58Z","timestamp":1774886458000},"page":"1-7","source":"Crossref","is-referenced-by-count":0,"title":["SHH Variant in a Father and a Son with Tracheobronchial Malformation"],"prefix":"10.1159","author":[{"given":"Suzan J.G.","family":"Knottnerus","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sabine M.P.J.","family":"Prevaes","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maartje J.","family":"Geerlings","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Erik-Jan","family":"Kamsteeg","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joppe","family":"Nijman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pim A.","family":"de Jong","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Charlotte I.","family":"de Bie","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Adriane D.M.","family":"Vorselaars","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"127","published-online":{"date-parts":[[2026,3,30]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1053\/j.sempedsurg.2016.02.007"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1038\/ng1196-353"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2012-101008"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1016\/s0960-9822(98)70446-4"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1242\/dev.199804"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1242\/dev.051680"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1002\/humu.21090"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1038\/s41586-023-06045-0"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1016\/j.ijporl.2016.01.024"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1002\/dvdy.20105"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1002\/dvdy.22192"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1007\/s004310050991"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-021-02344-6"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.1164\/rccm.201809-1626OC"},{"key":"ref15","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M110.112284"},{"key":"ref16","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpedsurg.2024.162085"},{"key":"ref17","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpedsurg.2008.10.105"},{"key":"ref18","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.63614"},{"key":"ref19","doi-asserted-by":"publisher","DOI":"10.1186\/s40246-023-00485-5"}],"container-title":["Molecular Syndromology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/karger.com\/article-pdf\/doi\/10.1159\/000551811","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,6,8]],"date-time":"2026-06-08T16:04:28Z","timestamp":1780934668000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000551811"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,3,30]]},"references-count":19,"URL":"https:\/\/doi.org\/10.1159\/000551811","archive":["Portico"],"relation":{"is-supplemented-by":[{"id-type":"doi","id":"10.6084\/m9.figshare.31878184","asserted-by":"subject"}]},"ISSN":["1661-8769","1661-8777"],"issn-type":[{"value":"1661-8769","type":"print"},{"value":"1661-8777","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,3,30]]}}}