From variant of unknown significance to actionable diagnosis: Stepwise interpretation of a novel KRT2 variant in superficial epidermolytic ichthyosis with excellent retinoid response
从意义不明的变异到可操作的诊断：逐步解读一种新型KRT2变异在具有良好维甲酸反应的浅表性表皮松解性鱼鳞病中的作用。
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doi:10.1016/j.jdin.2025.09.006
Bobica, Alexandra Carla; Moussa, Sarah; Ouchene, Lydia; Udupa, Megha; BinJadeed, Hessah; Bashihab, Rahaf; Misiewicz, Zuzanna; Grönroos, Laura; Powell, Julie; Chergui, May; Marino, Tania Cruz; Foulkes, William D; Netchiporouk, Elena
