Prenatal diagnosis of thanatophoric dwarfism in second trimester. A case report

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dc.authorscopusid7003740112
dc.authorscopusid6602721312
dc.authorscopusid6508212852
dc.authorscopusid6508060669
dc.authorscopusid7004415692
dc.contributor.authorYüce M.A.
dc.contributor.authorYardim T.
dc.contributor.authorKurtul M.
dc.contributor.authorDurukan S.
dc.contributor.authorGücer F.
dc.date.accessioned2024-06-12T10:28:08Z
dc.date.available2024-06-12T10:28:08Z
dc.date.issued1998
dc.description.abstractThanatophoric dwarfism is a lethal, rare osteochondrodysplasia and results from mutations on the fibroblast growth factor receptor 3 (FBGFR3) gene, on the short arm of chromosome 4. In this paper, we present a case of thanatophoric dwarfism diagnosed in the 18th pregnancy week.en_US
dc.identifier.endpage150en_US
dc.identifier.issn0390-6663
dc.identifier.issue4en_US
dc.identifier.pmid9987576en_US
dc.identifier.scopus2-s2.0-0032416575en_US
dc.identifier.scopusqualityQ4en_US
dc.identifier.startpage149en_US
dc.identifier.urihttps://hdl.handle.net/20.500.14551/17089
dc.identifier.volume25en_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.relation.ispartofClinical and Experimental Obstetrics and Gynecologyen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectPrenatal Diagnosis; Thanatophoric Dwarfism; Ultrasonographyen_US
dc.subjectFibroblast Growth Factor Receptor; Adult; Article; Case Report; Chromosome 4; Chromosome Analysis; Echography; Female; Human; Prenatal Diagnosis; Second Trimester Pregnancy; Thanatophoric Dwarfism; Adult; Diagnosis, Differential; Female; Fetal Diseases; Humans; Pregnancy; Pregnancy Trimester, Second; Thanatophoric Dysplasia; Ultrasonography, Prenatalen_US
dc.titlePrenatal diagnosis of thanatophoric dwarfism in second trimester. A case reporten_US
dc.typeArticleen_US

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