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

Eun Jung Noe, Han Wook Yoo, Kwang Nam Kim, So Yeon Lee

Clin Exp Pediatr. 2010;53(12):1022-1025. Published online December 31, 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...

DOI: https://doi.org/10.3345/kjp.2010.53.12.1022

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