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| Ichthyosis and erythrokeratoderma v0.3 | MBTPS2 |
Ellen McDonagh gene: MBTPS2 was added gene: MBTPS2 was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Red Mode of inheritance for gene: MBTPS2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: MBTPS2 were set to 22931912; 24313295 Phenotypes for gene: MBTPS2 were set to X-linked mutilating palmoplantar keratoderma with periorificial keratotic plaques (Olmsted syndrome); ?Olmsted syndrome, X-linked, 300918; IFAP syndrome. 308205, along with pachyonychia, palmoplantar and periorificial keratoderma |
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