Biallelic copy number variations in both upstream & downstream enhancers of SHOX gene causes mesomelia and clubfoot without short stature

Bengisu Guner Yilmaz,Saygin Abali, Azad Akberzade, Beril Ay, Sait Tumer,Ozlem Akgun Dogan,Gen Nishimura,Yasemin Alanay

EUROPEAN JOURNAL OF HUMAN GENETICS(2023)

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