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Prenatal diagnosis of a nasal glioma in the mid trimester

✍ Scribed by P. De Biasio; E. Scarso; F. Prefumo; C. Odella; A. Rossi; P. L. Venturini

Book ID
112224328
Publisher
John Wiley and Sons
Year
2006
Tongue
English
Weight
146 KB
Volume
27
Category
Article
ISSN
0960-7692

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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