A case of thanatophoric dysplasia type I with an R248C mutation in the FGFR3 gene

@inproceedings{Noe2010ACO,
  title={A case of thanatophoric dysplasia type I with an R248C mutation in the FGFR3 gene},
  author={Eun Jung Noe and Han Wook Yoo and Kwang Nam Kim and So Yeon Lee},
  booktitle={Korean journal of pediatrics},
  year={2010}
}
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 malformations result from the mutation in fibroblast growth factor receptor 3 (FGFR-3) gene which is located on the short arm of chromosome 4. A definite diagnosis should be established by molecular… CONTINUE READING

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