(Q80353839)
Statements
Microdeletion in the SHOX 3' region associated with skeletal phenotypes of Langer mesomelic dysplasia in a 45,X/46,X,r(X) infant and Leri-Weill dyschondrosteosis in her 46,XX mother: implication for the SHOX enhancer (English)
Maki Fukami
Torayuki Okuyama
Shunji Yamamori
Gen Nishimura
1 August 2005