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Fumarase deficiency presenting with periventricular cysts
Author(s) -
Loeffen J.,
Smeets R.,
Voit T.,
Hoffmann G.,
Smeitink J.
Publication year - 2005
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/s10545-005-0044-7
Subject(s) - fumarase , heterozygote advantage , phenotype , medicine , mutation , human genetics , progeria , pathology , endocrinology , genetics , biology , genotype , gene
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.