mjuːtˈeɪʃənz ɪnðə plˈɛk dʒˈiːn ɑːɹ ˈɔːlsoʊ bˌiːɪŋ ɹᵻsˈɜːtʃt, spəsˈɪfɪkli ɪnðə dʒˈiːnz ɹˈoʊl ɪnðɪ ˈɑːɡnə fˈɔːɹm ʌv ˌɛpɪdˌɜːmˈɑːləsˌɪs bʊlˈoʊsə sˈɪmplɛks.
Mutations in the PLEC gene are also being researched, specifically in the gene’s role in the Ogna form of epidermolysis bullosa simplex.