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Fig. 4 | Orphanet Journal of Rare Diseases

Fig. 4

From: Genetic, clinical and biochemical characterization of a large cohort of patients with hyaline fibromatosis syndrome

Fig. 4

Potential HFS biomarkers. (a) Heat map visualizing all 181 compounds for which values in HFS samples do not overlap with values in control samples. Note that the majority of the compounds is decreased in patients. (b) Box-plots for selected compounds (control samples in white, HFS patient samples in red). Y-axes indicate fold-changes relative to the median for the control samples. (B1) Unknown compound with an m/z ratio of 417.300467 and a charge of 1; (B2) Ceramide Cer(d18:0/d22:0); (B3) Sphingomyelin SM(d18:1/d16:1). (B4) Ceramide C26:0

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