P738: Novel PIGA-related disorder gene variant: Whole exome sequencing, postmortem sample analysis, and updated variant classification solves 20+ year diagnostic odyssey

• Ourania Parra,
• Edward Hughes,
• Dana Wright,
• Stephanie Vallee,
• Mary Beth Dinulos,
• Wahab Khan

Affiliations

Ourania Parra

Dartmouth Hitchcock Medical Center

Edward Hughes

Dartmouth Hitchcock Medical Center

Dana Wright

Dartmouth Hitchcock Medical Center

Stephanie Vallee

Dartmouth Hitchcock Medical Center

Mary Beth Dinulos

Dartmouth Hitchcock Medical Center, Geisel School of Medicine at Dartmouth

Wahab Khan

Dartmouth Hitchcock Medical Center, Geisel School of Medicine at Dartmouth