{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,10]],"date-time":"2025-12-10T14:58:43Z","timestamp":1765378723627,"version":"3.46.0"},"reference-count":6,"publisher":"Wiley","issue":"13","license":[{"start":{"date-parts":[[2025,10,28]],"date-time":"2025-10-28T00:00:00Z","timestamp":1761609600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["obgyn.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Prenatal Diagnosis"],"published-print":{"date-parts":[[2025,12]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>Joubert syndrome is a rare autosomal recessive ciliopathy defined by the \u201cmolar tooth\u201d sign caused by cerebellar vermis hypoplasia and abnormal superior cerebellar peduncles. Over 40 genes are known to cause the disorder, including KIAA0586, which encodes the centrosomal protein TALPID3, essential for ciliogenesis and Hedgehog signaling. Although KIAA0586\u2010related Joubert syndrome is primarily neurodevelopmental, cilia also play a key role in left\u2010right axis formation, however, laterality defects have not been reported in this context. We describe a prenatal case with suspected Joubert syndrome and left isomerism carrying a homozygous likely pathogenic KIAA0586 frameshift variant. The fetus showed dextrocardia, azygos continuation of the inferior vena cava, median gallbladder, persistent right umbilical vein, and a suspected molar tooth sign. This case suggests a possible phenotypic expansion of KIAA0586\u2010related ciliopathy and supports a role for TALPID3 in human left\u2010right patterning.<\/jats:p>","DOI":"10.1002\/pd.70008","type":"journal-article","created":{"date-parts":[[2025,10,28]],"date-time":"2025-10-28T15:20:03Z","timestamp":1761664803000},"page":"1783-1786","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Prenatal Diagnosis of Joubert Syndrome 23 With Left Isomerism: A Novel Phenotype Associated With Pathogenic KIAA0586 Variant"],"prefix":"10.1002","volume":"45","author":[{"ORCID":"https:\/\/orcid.org\/0009-0004-6291-8578","authenticated-orcid":false,"given":"Tamara","family":"Casteleyn","sequence":"first","affiliation":[{"name":"Department of Obstetrics Charit\u00e9 University Hospital  Berlin Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Markus","family":"Vogt","sequence":"additional","affiliation":[{"name":"Prenatal Medicine Bergmannstrasse  Berlin Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alexander","family":"Weichert","sequence":"additional","affiliation":[{"name":"Prenatal Medicine Bergmannstrasse  Berlin Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"B\u00e9la","family":"Zimmer","sequence":"additional","affiliation":[{"name":"Medicover Diagnostics  Martinsried Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Birgit","family":"Lala","sequence":"additional","affiliation":[{"name":"Department of Radiology Charit\u00e9 University Hospital  Berlin Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wolfgang","family":"Henrich","sequence":"additional","affiliation":[{"name":"Department of Obstetrics Charit\u00e9 University Hospital  Berlin Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4817-3368","authenticated-orcid":false,"given":"Josefine Theresia","family":"K\u00f6nigbauer","sequence":"additional","affiliation":[{"name":"Department of Obstetrics Charit\u00e9 University Hospital  Berlin Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2025,10,28]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.31963"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22821"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.gde.2019.06.010"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.7554\/elife.06602"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awab395"},{"key":"e_1_2_10_7_1","doi-asserted-by":"publisher","DOI":"10.1242\/dev.063602"}],"container-title":["Prenatal Diagnosis"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/pd.70008","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,12,10]],"date-time":"2025-12-10T14:56:24Z","timestamp":1765378584000},"score":1,"resource":{"primary":{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/10.1002\/pd.70008"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,10,28]]},"references-count":6,"journal-issue":{"issue":"13","published-print":{"date-parts":[[2025,12]]}},"alternative-id":["10.1002\/pd.70008"],"URL":"https:\/\/doi.org\/10.1002\/pd.70008","archive":["Portico"],"relation":{},"ISSN":["0197-3851","1097-0223"],"issn-type":[{"type":"print","value":"0197-3851"},{"type":"electronic","value":"1097-0223"}],"subject":[],"published":{"date-parts":[[2025,10,28]]},"assertion":[{"value":"2025-08-06","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-10-21","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-10-28","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}