From Variant of Unknown Significance to Actionable Diagnosis: Stepwise Interpretation of a Novel KRT2 Variant in Superficial Epidermolytic Ichthyosis with Excellent Retinoid Response

Name: From Variant of Unknown Significance to Actionable Diagnosis: Stepwise Interpretation of a Novel KRT2 Variant in Superficial Epidermolytic Ichthyosis with Excellent Retinoid Response
Creator: Alexandra Bobica
Published: 2025-08-12T15:53:14.030Z
Keywords: Genetics, Dermatology

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

doi:10.17632/9jbn4wznhs.1

From Variant of Unknown Significance to Actionable Diagnosis: Stepwise Interpretation of a Novel KRT2 Variant in Superficial Epidermolytic Ichthyosis with Excellent Retinoid Response

Published: 12 August 2025| Version 1 | DOI: 10.17632/9jbn4wznhs.1

Contributors:

Alexandra 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

From Variant of Unknown Significance to Actionable Diagnosis: Stepwise Interpretation of a Novel KRT2 Variant in Superficial Epidermolytic Ichthyosis with Excellent Retinoid Response

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