Thanatophoric dysplasia type 2: prenatal diagnosis through fetal ultrasound and next-generation sequencing

Thanatophoric dysplasia type 2 (TDII) is a rare and intractable genetic disease caused by de novo mutations in the FGFR3 gene, characterized by severe skeletal anomalies; this condition is lethal during the perinatal period and has a prevalence of 0.21-0.37 cases for every 10,000 births. We report a...

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Bibliographic Details

Published in:	Revista Chilena de Obstetricia y Ginecología
Main Authors:	Wilmar Saldarriaga, Manuel A. Vásquez-Salguero, Viviana López-López
Format:	Article
Language:	English
Published:	Permanyer 2024-01-01
Subjects:	Thanatophoric dysplasia. Prenatal ultrasonography. Fetal ultrasonography. Next-generation sequencing. FGFR3.
Online Access:	https://www.rechog.com/frame_eng.php?id=257