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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
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T. Ogata
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T. Okuyama
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G. Nishimura
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S. Yamamori
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M. Fukami
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