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Prenatal Diagnosis of Achondroplasia with Ultrasound, Three-Dimensional Computed Tomography and Molecular Methods

✍ Scribed by Pei-Yin Yang; Hiuai-Gian Liao; Guang-Perng Yeh; Charles Tsung-Che Hsieh


Book ID
119300399
Publisher
Elsevier Science
Year
2012
Tongue
English
Weight
655 KB
Volume
20
Category
Article
ISSN
0929-6441

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ULTRASOUND AND MOLECULAR MID–TRIMESTER P
✍ A. MESORACA; G. PILU; A. PEROLO; G. NOVELLI; N. SALFI; A. LUCCHI; L. BOVICELLI; πŸ“‚ Article πŸ“… 1996 πŸ› John Wiley and Sons 🌐 English βš– 711 KB

In a low-risk pregnant patient at 21 weeks' gestation, ultrasound revealed shortening of fetal long bones compatible with achondroplasia. Funipuncture was perfomed and DNA analysis of fetal blood demonstrated the presence of the GR380R fibroblast growth factor receptor 3 (FGFR3), which is specifical