A case of thanatophoric dysplasia type I with an R248C mutation in the FGFR3 gene
Eun Jung Noe (Noe EJ), Han Wook Yoo (Yoo HW), Kwang Nam Kim (Kim KN), So Yeon Lee (Lee SY)
Clin Exp Pediatr. 2010;53(12):1022-1025.   Published online 2010 Dec 31     DOI: https://doi.org/10.3345/kjp.2010.53.12.1022
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