PXE BIENNIAL RESEARCH MEETING, 2014Bethesda, MDSeptember 22nd-23rd
Karobi Moitra, PhDClare Boothe Luce Assistant ProfessorTrinity Washington UniversityWashington, DC.
Symptoms
ABCC6
Chromosome 16
Pseudoxanthoma elasticum - PXEA rare disease
Autosomal recessive
~1 in 50,000 worlwide~12,000 patients in US
Mineralization of connective tissues in thebody leading to blindness and heart disease
Inheritance
Gene
Chromosome
Frequency
Novel Variants in ABCC6 and Modifier Genes in PXE Patients Identified by
Next Generation Sequencing
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