Functional hemizygosity of PAFAH1B3 due to a PAFAH1B3-CLK2 fusion gene in a female with mental retardation, ataxia and atrophy of the brain

Hans Gerd Nothwang, H. G. Kim, J. Aoki, M. Geisterfer, S. Kübart, R. D. Wegner, A. Van Moers, L. K. Ashworth, T. Haaf, J. Bell, H. Arai, N. Tommerup, H. H. Ropers, J. Wirth

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Medicine & Life Sciences