From variant of unknown significance to actionable diagnosis: Stepwise interpretation of a novel KRT2 variant in superficial epidermolytic ichthyosis with excellent retinoid response.

Alexandra Carla Bobica, Sarah Moussa, Lydia Ouchene, Megha Udupa, Hessah BinJadeed, Rahaf Bashihab, Zuzanna Misiewicz, Laura Grönroos, Julie Powell, May Chergui, Tania Cruz Marino, William D Foulkes, Elena Netchiporouk