{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,4]],"date-time":"2025-12-04T00:08:05Z","timestamp":1764806885065,"version":"3.46.0"},"reference-count":8,"publisher":"Georg Thieme Verlag KG","issue":"06","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Z Geburtshilfe Neonatol"],"published-print":{"date-parts":[[2025,12]]},"abstract":"<jats:title>Zusammenfassung<\/jats:title>\n                  <jats:p>Als Zilien werden d\u00fcnne Forts\u00e4tze auf den Zellen von eukaryoten Organismen\n                    bezeichnet. Diese werden von einem speziellen Proteintransportmechanismus \u2013 dem\n                    intraflagellar Transporter (IFT) gebildet. Der IFT besteht aus zwei Proteinen:\n                    Komplex A und Komplex B. Mutationen in den Genen des IFT-A-Komplexes (IFT43,\n                    IFT121, IFT122, IFT139, IFT140 und IFT144) f\u00fchren zur Entstehung von\n                    Skelett-Ziliopathien. Zu diesen z\u00e4hlen das Sensenbrenner-, Jeune- und\n                    Kurzrippen-Polydaktylie-Syndrom [1,2]. Wir berichten \u00fcber zwei F\u00e4lle\n                    unterschiedlicher Ziliopathien in einer nicht-blutsverwandten Familie, beide\n                    Elternteile sind heterozygote Tr\u00e4ger einer pathogenen Mutation im IFT122- Gen.<\/jats:p>","DOI":"10.1055\/a-2663-7946","type":"journal-article","created":{"date-parts":[[2025,8,1]],"date-time":"2025-08-01T23:00:02Z","timestamp":1754089202000},"page":"453-456","source":"Crossref","is-referenced-by-count":0,"title":["Zwei F\u00e4lle von Skelett-Ziliopathien in einer Familie"],"prefix":"10.1055","volume":"229","author":[{"given":"Georgi Stefanov","family":"Kirov","sequence":"additional","affiliation":[{"name":"Geburtshilfe und Pr\u00e4natalmedizin, Evangelisches Jung\n                    Stilling Krankenhaus GmbH, Siegen, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Frauke","family":"Schmidt","sequence":"additional","affiliation":[{"name":"Genetik, MVZ Institut f\u00fcr Labormedizin und Klinische\n                    Genetik Rhein Ruhr GmbH, Essen, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Senem Elena","family":"Alsat-Krenz","sequence":"additional","affiliation":[{"name":"Geburtshilfe und Pr\u00e4natalmedizin, Evangelisches Jung\n                    Stilling Krankenhaus GmbH, Siegen, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Flutura","family":"Dede","sequence":"additional","affiliation":[{"name":"Geburtshilfe und Pr\u00e4natalmedizin, Evangelisches Jung\n                    Stilling Krankenhaus GmbH, Siegen, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"194","published-online":{"date-parts":[[2025,8,1]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2011.10.001.","article-title":"Ciliopathies with Skeletal Anomalies and Renal Insufficiency due to Mutations in\n                    the IFT-A Gene WDR19","author":"C Bredrup","year":"2011","journal-title":"The American Society of Human Genetics"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2010.04.012.","article-title":"Cranioectodermal Dysplasia, Sensenbrenner Syndrome, Is a Ciliopathy Caused by\n                    Mutations in the IFT122 Gene","author":"J Walczak-Sztulpa","year":"2010","journal-title":"The American Society of Human Genetics"},{"key":"ref3","doi-asserted-by":"publisher","first-page":"516","DOI":"10.1093\/hmg\/ddx421","article-title":"Ciliopathy-associated mutations of IFT122 impair ciliary protein trafficking but\n                    not ciliogenesis","volume":"27","author":"M Takahara","year":"2018","journal-title":"Hum Mol Genet"},{"key":"ref4","doi-asserted-by":"publisher","first-page":"1186","DOI":"10.1002\/ajmg.a.38157","article-title":"Beemer-Langer syndrome is a ciliopathy due to biallelic mutations in IFT122","volume":"173","author":"K C Silveira","year":"2017","journal-title":"Am J Med Genet A."},{"volume-title":"Cranioectodermal Dysplasia GeneReviews\u00ae [Internet]","year":"1993","author":"W Tan","key":"ref5"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.61785","article-title":"Prenatal genetic diagnosis of cranioectodermal dysplasia in a Polish family with\n                    compound heterozygous variants in WDR35","author":"J Walczak-Sztulpa","journal-title":"American Journal of Medical Genetics"},{"key":"ref7","doi-asserted-by":"publisher","first-page":"628","DOI":"10.1002\/pd.5037","article-title":"Prenatal sonographic features of cranioectodermal dysplasia","volume":"37","author":"T Muttusamy","year":"2017","journal-title":"Prenat Diagn"},{"key":"ref8","doi-asserted-by":"publisher","first-page":"298","DOI":"10.1046\/j.1469-0705.1998.11040298.x","article-title":"Early transvaginal ultrasonographic diagnosis of Beemer-Langer dysplasia: a\n                    report of two cases","volume":"11","author":"N S den Hollander","year":"1998","journal-title":"Ultrasound Obstet Gynecol"}],"container-title":["Zeitschrift f\u00fcr Geburtshilfe und Neonatologie"],"original-title":[],"language":"de","link":[{"URL":"http:\/\/www.thieme-connect.de\/products\/ejournals\/pdf\/10.1055\/a-2663-7946.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,12,4]],"date-time":"2025-12-04T00:04:42Z","timestamp":1764806682000},"score":1,"resource":{"primary":{"URL":"http:\/\/www.thieme-connect.de\/DOI\/DOI?10.1055\/a-2663-7946"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,8,1]]},"references-count":8,"journal-issue":{"issue":"06","published-online":{"date-parts":[[2025,12,3]]},"published-print":{"date-parts":[[2025,12]]}},"URL":"https:\/\/doi.org\/10.1055\/a-2663-7946","archive":["Portico","CLOCKSS"],"relation":{},"ISSN":["0948-2393","1439-1651"],"issn-type":[{"type":"print","value":"0948-2393"},{"type":"electronic","value":"1439-1651"}],"subject":[],"published":{"date-parts":[[2025,8,1]]}}}