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PXE BIENNIAL RESEARCH MEETING, 2014 Bethesda, MD September 22 nd -23 rd

PXE BIENNIAL RESEARCH MEETING, 2014 Bethesda, MD September 22 nd -23 rd. Karobi Moitra, PhD Clare Boothe Luce Assistant Professor Trinity Washington University Washington, DC. Pseudoxanthoma elasticum - PXE. Inheritance. Gene. ABCC6. Chromosome 16. A rare disease. Autosomal recessive.

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PXE BIENNIAL RESEARCH MEETING, 2014 Bethesda, MD September 22 nd -23 rd

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  1. PXE BIENNIAL RESEARCH MEETING, 2014Bethesda, MDSeptember 22nd-23rd Karobi Moitra, PhD Clare Boothe Luce Assistant Professor Trinity Washington University Washington, DC.

  2. Pseudoxanthomaelasticum - PXE Inheritance Gene ABCC6 Chromosome 16 A rare disease Autosomal recessive ~1 in 50,000 worlwide ~12,000 patients in US Mineralization of connective tissues in the body leading to blindness and heart disease Chromosome Frequency Symptoms

  3. Our Poster Title Novel Variants in ABCC6 and Modifier Genes in PXE Patients Identified by Next Generation Sequencing

  4. Our Poster

  5. The student presenters from Trinity Michelle Jaldin, Sonia Garcia and Clementine Etoundi

  6. The presenters with Pat Terry: Co-founder, PXE International and Mike Dean, Lab Chief NIH

  7. The presenters

  8. Some of the attendees

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