research Large Intragenic KRT1 Deletion Underlying Atypical Autosomal Dominant Keratinopathic Ichthyosis
A rare genetic deletion in the KRT1 gene causes unique skin symptoms in a family.
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5 / 786 resultsresearch A Newborn Presenting With Congenital Blistering
The newborn's skin blistering is due to a genetic condition called epidermolytic hyperkeratosis.
research KRT16 Wild Type Allele
Mutations in the KRT16 gene can cause skin and nail disorders.
research Focal Palmoplantar Callosities in Non-Herlitz Junctional Epidermolysis Bullosa
Focal palmoplantar callosities may help diagnose non-Herlitz junctional epidermolysis bullosa.
research RSPO1-Mutated Keratinocytes From Palmoplantar Keratoderma Display Impaired Differentiation and Invasiveness: Implications for Squamous Cell Carcinoma Susceptibility in Patients With 46XX Disorder of Sexual Development
RSPO1 mutations in certain patients lead to skin cells that don't develop properly and are more likely to become invasive, increasing the risk of skin cancer.
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