{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,5,14]],"date-time":"2025-05-14T12:38:21Z","timestamp":1747226301918,"version":"3.40.5"},"reference-count":0,"publisher":"Care Comm","issue":"5","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Ceska Gynekol"],"published-print":{"date-parts":[[2023,10,30]]},"abstract":"<jats:p>Summary: Bone dysplasias are a broad, heterogeneous group of diseases. Thanatophoric dysplasia is a rare bone dysplasia, but it is the most common lethal skeletal dysplasias. The major role in diagnostics plays a high-quality ultrasound examination in the 2nd trimester and the latest methods of genetic testing, including clinical exome testing. Knowing the correct diagnosis is crucial for the future of the fetus and the couple.   Key words: skletal dysplasia \u2013 whole exome \u2013 thanaphoric dysplasia<\/jats:p>","DOI":"10.48095\/cccg2023376","type":"journal-article","created":{"date-parts":[[2023,11,14]],"date-time":"2023-11-14T12:14:04Z","timestamp":1699964044000},"page":"376-379","source":"Crossref","is-referenced-by-count":0,"title":["Diagnosis of thanatophoric dysplasia using clinical exome screening"],"prefix":"10.48095","volume":"88","author":[{"name":"Center of Fetal Medicine and Medical Genetics, Gennet, Prague, Czech Republic","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michal","family":"Holub","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Martina","family":"Sekowsk\u00e1","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dagmar","family":"Smetanov\u00e1","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Monika","family":"Koudov\u00e1","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kate\u0159ina","family":"Sobolov\u00e1","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5584-0398","authenticated-orcid":false,"given":"Alexandra","family":"\u0160insk\u00e1","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5732-3159","authenticated-orcid":false,"given":"Hynek","family":"He\u0159man","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"28151","published-online":{"date-parts":[[2023,10,30]]},"container-title":["\u010cesk\u00e1 gynekologie"],"original-title":["Diagnosis of thanatophoric dysplasia using clinical exome screening"],"deposited":{"date-parts":[[2023,11,14]],"date-time":"2023-11-14T12:14:28Z","timestamp":1699964068000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.cs-gynekologie.cz\/en\/journals\/czech-gynaecology\/2023-5-5\/diagnosis-of-thanatophoric-dysplasia-using-clinical-exome-screening-135553"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,10,30]]},"references-count":0,"journal-issue":{"issue":"5","published-online":{"date-parts":[[2023,10,30]]},"published-print":{"date-parts":[[2023,10,30]]}},"URL":"https:\/\/doi.org\/10.48095\/cccg2023376","relation":{},"ISSN":["1210-7832","1805-4455"],"issn-type":[{"type":"print","value":"1210-7832"},{"type":"electronic","value":"1805-4455"}],"subject":[],"published":{"date-parts":[[2023,10,30]]}}}