research Case of Epidermolytic Ichthyosis with a Novel L157P Mutation in KRT10 Complicated by Hypercalcemia
A man with a rare skin condition and a new gene mutation developed high calcium levels due to his treatment.
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5 / 842 results research The Phenotypic and Genotypic Spectra of Ichthyosis With Confetti Plus Novel Genetic Variation in the 3′ End of KRT10
Ichthyosis with confetti is a genetic skin disorder with consistent ectodermal malformations and various KRT10 gene mutations.
research A Gene for Pachyonychia Congenita Is Closely Linked to the Keratin Gene Cluster on 17q12-q21
Pachyonychia congenita is linked to a keratin gene on chromosome 17.
research Ichthyosis with Confetti: Clinics, Molecular Genetics and Management
Revertant cell therapy could be a future treatment for Ichthyosis with confetti.
research Bullous Congenital Ichthyosiform Erythroderma with Tinea Capitis in Half-Siblings: Rare Phenomenon in Ichthyosis with Co-Existing Trichophyton Rubrum Infection and Blocker Displacement Amplification for Mosaic Mutation Detection
Half-siblings with a rare skin condition improved with treatment for a fungal infection, but hair loss remained.
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