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Figure 1 | Orphanet Journal of Rare Diseases

Figure 1

From: Expression of the disease on female carriers of X-linked lysosomal disorders: a brief review

Figure 1

Male patient with Fabry disease (left, child) and a heterozygote for Fabry disease (right, mother). The male patient is 21 years old and presents pain in hands and achroparestesias, temperature intolerance, hypohidrosis, and proteinuria. He presents a 30delG in the α-GAL gene. The mother is 62 years old and has diabetes mellitus, cardiopathy and proteinuria. She is a carrier of 30delG in the α-GAL gene. Image use authorized by patients.

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