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  • Title: Prenatal diagnosis of thanatophoric dwarfism in second trimester. A case report.
    Author: Yüce MA, Yardim T, Kurtul M, Durukan S, Gücer F.
    Journal: Clin Exp Obstet Gynecol; 1998; 25(4):149-50. PubMed ID: 9987576.
    Abstract:
    Thanatophoric 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.
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