THANATOPHORIC DYSPLASIA: LITERATURE REVIEW AND CLINICAL CASE IN MONOCHORIC DIAMNIOTIC TWINS

• Asıl Yazarlar: І. Ластівка (Yazar), А. Бабінцева (Yazar), В. Анцупова (Yazar), Л. Брішевац (Yazar), О. Юрків (Yazar), І. Малєєва (Yazar)
• Materyal Türü: Kitap
• Baskı/Yayın Bilgisi: Bukovynian State Medical University, 2023-10-01T00:00:00Z.
• Konular: article
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Thanatophoric dysplasia, TD (OMIM: 187600, 87601) belongs to the group of FGFR3 chondrodysplasias and is divided into types I and II. The incidence of TD is approximately 1:20,000-50,000 newborns. TD is usually caused by pathogenic variants in the FGFR3 gene, which provides instructions for making a...