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Frequency of clinical signs of Fabry disease

Clinical features of Fabry disease in 20 children (13 boys and 7 girls). Abbreviation: LVH, left ventricular hypertrophy.

(Source: Savostyanov K, Pushkov A, Zhanin I, et al. Genotype-phenotype correlations in 293 Russian patients with causal Fabry disease variants. Genes [Basel] 2023;14[11]:2016. Creative Commons Attribution 4.0 International [CC BY 4.0] license, creativecommons.org/licenses/by/4.0.)

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  • Atypical heterozygotes
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  • Hypertrophic cardiomyopathy
  • Myocardial infarction
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