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http://dx.doi.org/10.3345/kjp.2010.53.12.1022

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

Noe, Eun-Jung (Department of Pediatrics, College of Medicine, Hallym University)
Yoo, Han-Wook (Department of Pediatrics, Medical Genetics Clinic & Laboratory, Asan Medical Center)
Kim, Kwang-Nam (Department of Pediatrics, College of Medicine, Hallym University)
Lee, So-Yeon (Department of Pediatrics, College of Medicine, Hallym University)
Publication Information
Clinical and Experimental Pediatrics / v.53, no.12, 2010 , pp. 1022-1025 More about this Journal
Abstract
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 genetic analysis to find out the abnormal mutations in the $FGFR3$ gene. We confirmed by detection of a R248C mutation in the $FGFR3$ gene in DNA analysis.
Keywords
Thanatophoric dysplasia; Fbroblast growth factor receptor 3 (FGFR3) gene;
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