Summary
A fumarase-deficient patient expressed a novel phenotype of congenital cerebral ventricular dilatation and periventricular cysts. The patient was a compound heterozygote for two mutations that are the only ones among the 12 published mutations that have been found in multiple, unrelated, fumarase-deficient patients.
References
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Loeffen, J., Smeets, R., Voit, T. et al. Fumarase deficiency presenting with periventricular cysts. J Inherit Metab Dis 28, 799–800 (2005). https://doi.org/10.1007/s10545-005-0044-7
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DOI: https://doi.org/10.1007/s10545-005-0044-7