A case of thanatophoric dysplasia type I with an R248C mutation in the gene
Thanatophoric dysplasia (TD) is a short-limb neonatal dwarfism syndrome that is usually lethal in the perinatal period. It is characterized by shortening of the limbs, severely small thorax, large head with a prominent forehead, macrocephaly, curved femur, and flattened vertebral bodies. These malfo...
| Main Authors: | , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Korean Pediatric Society
2010-12-01
|
| Series: | Korean Journal of Pediatrics |
| Subjects: | |
| Online Access: | http://kjp.or.kr/upload/pdf/kjped-53-1022.pdf |