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

Maki Fukami(National Center For Child Health and Development), Tsutomu Ogata(Hamamatsu University School of Medicine), Gen Nishimura(Musashino University), Shunji Yamamori(Mitsubishi Group (Japan)), Torayuki Okuyama

American Journal of Medical Genetics Part A

July 8, 2005

Cited by 33

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Microdeletion in the <i>SHOX</i> 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 <i>SHOX</i> enhancer