research Lamellar Ichthyosis with Pseudoexon Activation in the Transglutaminase 1 Gene
The boy's severe skin disorder is caused by two new mutations in his TGM1 gene.
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5 / 82 results research NIPAL4 Mutation c.527C>A Identified in Romanian Patients With Autosomal Recessive Congenital Ichthyosis
The NIPAL4 mutation c.527C>A is common in Romanian patients with autosomal recessive congenital ichthyosis.
research Immunology and Genetics
The document concludes that Borrelia afzelii causes a skin condition in France, a gene is linked to hair loss in Caucasian women, and various genetic mutations affect skin diseases.
research Inherited Ichthyoses: Generalized Mendelian Disorders of Cornification
Inherited ichthyoses cause widespread skin scaling and thickening due to gene mutations.
research Molecular Genetics of Keratinization Disorders: What's New About Ichthyosis
Over 67 genes linked to ichthyosis help improve diagnosis and treatment.
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