Sumire Terasawa   Asuka Kato   Haruki Nishizawa   Takema Kato   Hikari Yoshizawa   Yoshiteru Noda   Jun Miyazaki   Mayuko Ito   Takao Sekiya   Takuma Fujii   Hiroki Kurahashi   
Congenital anomalies 59(1) 4-10 2019年1月 [査読有り]
Thanatophoric dysplasia and achondroplasia are allelic disorders caused by a constitutively active mutation in the FGFR3 gene. Because thanatophoric dysplasia is a lethal disorder and achondroplasia is non-lethal, they need to be distinguished aft...