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Eussen, B. H. J., Bartalini, G., Bakker, L., Balestri, P., Di Lucca, C., Hemel, J. O., Dauwerse, H. G., van den Ouweland, A. M. W., Ris-Stalpers, C., Verhoef, S., & Halley, D. J. J. (2000). An unbalanced submicroscopic translocation t(8;16)(q24.3;p13.3)pat associated with tuberous sclerosis complex, adult polycystic kidney disease, and hypomelanosis of Ito. Journal of Medical Genetics, 37, 287-291. https://doi.org/10.1136/jmg.37.4.287 -
Kalaydjieva, L., Gresham, D., Gooding, R., Heather, L., Baas, F., de Jonge, R., Blechschmidt, K., Angelicheva, D., Chandler, D., Worsley, P., Rosenthal, A., King, R. H. M., & Thomas, P. K. (2000). N-myc downstream-regulated gene 1 is mutated in hereditary motor and sensory neuropathy-Lom. American Journal of Human Genetics, 67, 47-58.
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