Phenotype and genotype correlation of inherited epidermolysis bullosa in Indonesia.
Inne Arline DianaEne Choo TanSrie Prihianti GondokaryonoMark Jean Aan KohReiva Farah DwiyanaJuly Iriani RahardjaYuri YogyaKhadijah Rafi'eeOki SuwarsaPublished in: The Australasian journal of dermatology (2023)
The molecular diagnoses of 12 Indonesian EB patients were identified, of which three were novel pathogenic variants. Concordance between the initial clinical diagnosis and genetic testing was only 33%. This demonstrated the importance of early genetic testing for accurate diagnosis, prognostication, management and genetic counselling.