Associated Papers
Fumarase Deficiency: A Case With a New Pathogenic Mutation and a Review of the Literature.
Peetsold M et al.
Journal of Child Neurology, 2021
Targeted sequencing of FH-deficient uterine leiomyomas reveals biallelic inactivating somatic fumarase variants and allows characterization of missense variants.
Popp B et al.
Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2020
32612247 (PubMed )
Supplement: 41379_2020_596_MOESM2_ESM.xlsx › FH_LOVD
Clinical and biochemical heterogeneity associated with fumarase deficiency.
Ottolenghi C et al.
Human Mutation, 2011
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