Atypical angioid streaks in a patient with a monoallelic ABCC6 mutation.

Abstract excerpt

BACKGROUND: Pseudoxanthoma elasticum (PXE) is characterized by aberrant calcification of elastic tissues throughout the body causing varying degrees of skin, cardiac, and ocular disease. Although PXE is classically regarded as an autosomal recessive disease, recent reports have demonstrated a haploinsufficiency phenotype, in which carriers of monoallelic ATP-binding cassette transporter (ABCC6) gene mutations...

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