research Novel Mutations of the ABCA12, KRT1 and ST14 Genes in Three Unrelated Newborns Showing Congenital Ichthyosis
New genetic mutations linked to rare skin disorders were found in three newborns.
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5 / 237 results 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.
research Transcriptome Analysis Reveals the Genetic Basis Underlying the Development of Skin Appendages and Immunity in Hedgehog (Atelerix Albiventris)
Genes related to keratin, skin cell differentiation, and immune functions are key in hedgehog skin and spine development.
research Transcriptome Analysis Reveals the Genetic Basis Underlying the Development of Skin Appendages and Immunity in Hedgehog (Atelerix Albiventris)
The study found that certain genes are important for hedgehog skin appendage development and immunity, with spines possibly evolving for protection and infection resistance.
research A Newborn Presenting With Congenital Blistering
The newborn's skin blistering is due to a genetic condition called epidermolytic hyperkeratosis.
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