SIX1 mutation screening in 247 branchio-oto-renal syndrome families: A recurrent missense mutation associated with BOR

Amit Kochhar, Dana J. Orten, Jessica L. Sorensen, Stephanie M. Fischer, Cor W.R.J. Cremers, William J. Kimberling, Richard J.H. Smith

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    Biochemistry, Genetics and Molecular Biology