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Ichthyosis and erythrokeratoderma v1.41 KRT9 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Palmoplantar Keratoderma, Epidermolytic;Diffuse keratoderma with knuckle pads;Diffuse keratoderma with digital mutilation;V rner type palmoplantar keratoderma;Diffuse keratoderma;Palmoplantar keratoderma, epidermolytic, 144200;Epidermolytic Palmoplantar Keratoderma (EPPK)
Ichthyosis and erythrokeratoderma v1.41 KRT9 Ivone Leong Phenotypes for gene: KRT9 were changed from Palmoplantar Keratoderma, Epidermolytic; Diffuse keratoderma with knuckle pads; Diffuse keratoderma with digital mutilation; V rner type palmoplantar keratoderma; Diffuse keratoderma; Palmoplantar keratoderma, epidermolytic, 144200; Epidermolytic Palmoplantar Keratoderma (EPPK) to Diffuse keratoderma; Palmoplantar keratoderma, epidermolytic, OMIM:144200
Ichthyosis and erythrokeratoderma v0.3 KRT9 Ellen McDonagh gene: KRT9 was added
gene: KRT9 was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Green
Mode of inheritance for gene: KRT9 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KRT9 were set to 7511021; 12838553; 21410681; 7512862; 7532199
Phenotypes for gene: KRT9 were set to Palmoplantar Keratoderma, Epidermolytic; Diffuse keratoderma with knuckle pads; Diffuse keratoderma with digital mutilation; V rner type palmoplantar keratoderma; Diffuse keratoderma; Palmoplantar keratoderma, epidermolytic, 144200; Epidermolytic Palmoplantar Keratoderma (EPPK)