Associated Papers
Loricrin keratoderma: description of a novel mutation, systematic review and meta-analysis between genotypic and phenotypic features.
Montero-Vilchez T et al.
Journal Der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : Jddg, 2020
Two novel mutations in the LOR gene in three families with loricrin keratoderma.
Hotz A et al.
The British Journal of Dermatology, 2015
Suppressing AP1 factor signaling in the suprabasal epidermis produces a keratoderma phenotype.
Rorke EA et al.
The Journal of Investigative Dermatology, 2015
Collodion baby and loricrin keratoderma: a case report and mutation analysis.
Yeh JM et al.
Clinical and Experimental Dermatology, 2013
A novel c.545-546insG mutation in the loricrin gene correlates with a heterogeneous phenotype of loricrin keratoderma.
Song S et al.
The British Journal of Dermatology, 2008
De novo occurrence of the 730insG recurrent mutation in an Italian family with the ichthyotic variant of Vohwinkel syndrome, loricrin keratoderma.
Drera B et al.
Clinical Genetics, 2008
Towards characterization of palmoplantar keratoderma caused by gain-of-function mutation in loricrin: analysis of a family and review of the literature.
Gedicke MM et al.
The British Journal of Dermatology, 2006
A recurrent mutation in the loricrin gene underlies the ichthyotic variant of Vohwinkel syndrome.
O'Driscoll J et al.
Clinical and Experimental Dermatology, 2002
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