Identification of two PAX3 mutations causing waardenburg syndrome, one within the paired domain (M62V) and the other downstream of the homeodomain (Q282X)
Corresponding Author
Dr. Frans A. Hol
Department of Human Genetics, University Hospital Nijmegen, 6500 HB Nijmegen, The Netherlands
Department of Human Genetics, University Hospital Nijmegen, 6500 HB Nijmegen, The NetherlandsSearch for more papers by this authorMonique P.A. Geurds
Department of Human Genetics, University Hospital Nijmegen, 6500 HB Nijmegen, The Netherlands
Search for more papers by this authorCor W.R.J. Cremers
Department of Oto-Rhino-Laryngology, University Hospital Nijmegen, 6500 HB Nijmegen, The Netherlands
Search for more papers by this authorBen C.J. Hamel
Department of Human Genetics, University Hospital Nijmegen, 6500 HB Nijmegen, The Netherlands
Search for more papers by this authorEdwin C.M. Mariman
Department of Human Genetics, University Hospital Nijmegen, 6500 HB Nijmegen, The Netherlands
Search for more papers by this authorCorresponding Author
Dr. Frans A. Hol
Department of Human Genetics, University Hospital Nijmegen, 6500 HB Nijmegen, The Netherlands
Department of Human Genetics, University Hospital Nijmegen, 6500 HB Nijmegen, The NetherlandsSearch for more papers by this authorMonique P.A. Geurds
Department of Human Genetics, University Hospital Nijmegen, 6500 HB Nijmegen, The Netherlands
Search for more papers by this authorCor W.R.J. Cremers
Department of Oto-Rhino-Laryngology, University Hospital Nijmegen, 6500 HB Nijmegen, The Netherlands
Search for more papers by this authorBen C.J. Hamel
Department of Human Genetics, University Hospital Nijmegen, 6500 HB Nijmegen, The Netherlands
Search for more papers by this authorEdwin C.M. Mariman
Department of Human Genetics, University Hospital Nijmegen, 6500 HB Nijmegen, The Netherlands
Search for more papers by this author
References
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