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Fig. 1 | BMC Medical Genetics

Fig. 1

From: Case report: a synonymous VHL mutation (c.414A > G, p.Pro138Pro) causes pathogenic familial hemangioblastoma through dysregulated splicing

Fig. 1

Clinical findings of the VHL disease family. (a) Five-generation pedigree of the patient family shows that the synonymous VHL variant c.414A > G segregates with affected family members. (b) T2-weighted MRI shows PHEO in the left adrenal gland of the proband. (c) Axial T1-weighted post contrast MRI shows the HGB in the right cerebellum of the proband. (D-E) Fluorescein angiography shows the retinal HGB in the left and right eye of Twin 1. In all images, white arrows point to the tumors

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BMC Medical Genetics

ISSN: 1471-2350

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