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The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
Orpha Number: 41
A rare genodermatosis characterised by the presence of hyperpigmented and hypopigmented macules, principally located on the extremities and limbs.
The first manifestations of the disease generally appear during early childhood.
A mutation has been identified in the double-stranded RNA-specific adenosine deaminase ( ADAR ) gene.
Transmission is autosomal dominant.
Visit the Orphanet disease page for more resources.
Source: GARD Last updated on 05-01-20
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