PXE BIENNIAL RESEARCH MEETING, 2014 Bethesda, MD September 22 nd -23 rd
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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.
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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. - PowerPoint PPT Presentation
Transcript of PXE BIENNIAL RESEARCH MEETING, 2014 Bethesda, MD September 22 nd -23 rd
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
Our Poster Title
Our Poster
The student presenters from Trinity
Michelle Jaldin, Sonia Garcia and Clementine Etoundi
The presenters with Pat Terry: Co-founder, PXE International and Mike
Dean, Lab Chief NIH
The presenters
Some of the attendees
