{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,18]],"date-time":"2026-05-18T13:45:42Z","timestamp":1779111942173,"version":"3.51.4"},"reference-count":22,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2024,4,18]],"date-time":"2024-04-18T00:00:00Z","timestamp":1713398400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100009619","name":"Japan Agency for Medical Research and Development","doi-asserted-by":"publisher","award":["16ek0109166h0002"],"award-info":[{"award-number":["16ek0109166h0002"]}],"id":[{"id":"10.13039\/100009619","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Congenital Anomalies"],"published-print":{"date-parts":[[2024,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>A 27\u2010year\u2010old multiparous woman conceived her fetus naturally. Early second\u2010trimester ultrasound showed short extremities with systemic subcutaneous edema. The pregnancy was artificially terminated at 19\u2009weeks of gestation because of the abnormalities based on the parents' wishes. The parents desired whole\u2010exome sequencing to detect a causative gene using the umbilical cord and the parents' saliva. Compound heterozygous variants (NC_000003.11(NM_052989.3):c.230\u2009T\u2009&gt;\u2009G\/NC_000003.11(NM_052985.4):c.1178A\u2009&gt;\u2009T) were identified. We described a fetus with a novel compound heterozygous variant in <jats:italic>IFT122<\/jats:italic>. The phenotype of this case was severer than of other types of cranioectodermal dysplasia.<\/jats:p>","DOI":"10.1111\/cga.12569","type":"journal-article","created":{"date-parts":[[2024,4,19]],"date-time":"2024-04-19T05:19:40Z","timestamp":1713503980000},"page":"177-181","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["A novel variant in <scp><i>IFT122<\/i><\/scp> associated with a severe phenotype of cranioectodermal dysplasia"],"prefix":"10.1111","volume":"64","author":[{"given":"Shiho","family":"Nagayama","sequence":"first","affiliation":[{"name":"Department of Obstetrics and Gynecology Jichi Medical University  Shimotsuke Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1652-9438","authenticated-orcid":false,"given":"Hironori","family":"Takahashi","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology Jichi Medical University  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