Search Results - clinical+and+disease+specializations+%3e+dermatology+%3e+port-wine+stain

1 Results

Sort By:

Diagnostic Test for Sturge-Weber Syndrome (SWS), Klippel-Trenaunay-Weber Syndrome, and Port-Wine Stains (PWSs) Based on Analysis of Gene Mutations and Biological Consequences of the Mutation

Value Proposition:Sturge-Weber syndrome (SWS) is a neurovascular disorder that is often associated with a capillary malformation of the face called a port-wine stain (PWS). SWS is phenotypically related to Klippel-Trenaunay-Weber syndrome (KTWS) which is characterized by a triad of port-wine stain, varicose veins, and bony and soft tissue hypertrophy...

Published: 6/27/2024 | Inventor(s): Douglas Marchuk, Jonathan Pevsner, Anne Comi, Matthew Shirley

Keywords(s): Assay, Clinical Diagnostics, Disease Indication, In Vitro Diagnostics, Klippel-Trenaunay-Weber Syndrome, Port-Wine Stain, Skin Disorders, Sturge-Weber Syndrome, Sturge-Weber Syndrome (SWS)

Category(s): Clinical and Disease Specializations, Clinical and Disease Specializations > Dermatology, Clinical and Disease Specializations > Dermatology > Port-Wine Stain, Clinical and Disease Specializations > Dermatology > Sturge-Weber Syndrome, Clinical and Disease Specializations > Genetic Diseases, Clinical and Disease Specializations > Genetic Diseases > Klippel-Trenaunay-Weber Syndrome, Clinical and Disease Specializations > Rare Diseases, Technology Classifications > Diagnostics > In Vitro Diagnostics, Technology Classifications > Research Tools > Assays, Technology Classifications > Diagnostics, Technology Classifications > Research Tools