Phenotypic variation in epidermolytic ichthyosis: clinical and functional evaluation of the novel p.(Met339Lys) mutation in the L12 domain of KRT1

Exp Dermatol. 2015 Nov;24(11):883-5. doi: 10.1111/exd.12786. Epub 2015 Aug 21.

Ruud G L Nellen^{1

2}, Ivo F Nagtzaam^{1

2}, A Jeannette M Hoogeboom³, Reno S Bladergroen¹, Marcel F Jonkman⁴, Peter M Steijlen^{1

2}, Maurice A M van Steensel^{1

2

5

6}, Michel van Geel^{1

2

5}

¹ Department of Dermatology, Maastricht University Medical Centre, Maastricht, The Netherlands.
² GROW Research School for Oncology and Developmental Biology, Maastricht University Medical Centre, Maastricht, The Netherlands.
³ Department of Clinical Genetics, Erasmus MC, University Medical Center, Rotterdam, The Netherlands.
⁴ Department of Dermatology, University Medical Centre Groningen, University of Groningen, Groningen, The Netherlands.
⁵ Department of Clinical Genetics, Maastricht University Medical Centre, Maastricht, The Netherlands.
⁶ Institute of Medical Biology, Immunos, Singapore.

No abstract available

Keywords: Epidermolytic ichthyosis; KRT1; keratin; palmoplantar keratoderma.

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