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...
Saved in:
| Main Authors: | , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Permanyer
2024-01-01
|
| Series: | Revista Chilena de Obstetricia y Ginecología |
| Subjects: | |
| Online Access: | https://www.rechog.com/frame_eng.php?id=257 |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|