A combination of two truncating mutations in USH2A causes more severe and progressive hearing impairment in Usher syndrome type IIa

Bas P. Hartel, Maria Lofgren, Patrick L. M. Huygen, Iris Guchelaar, Nicole Lo-A-Njoe Kort, Andre M. Sadeghi, Erwin van Wijki, Lisbeth Tranebjaerg, Hannie Kremer, William J. Kimberling, Cor W. R. J. Cremers, Claes Moller, Ronald J. E. Pennings

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Medicin og biovidenskab