A severe familial phenotype of Ichthyosis Curth-Macklin caused by a novel mutation in the KRT1 gene

Keyphrases

• Binucleated Cells 33%
• Colombia 33%
• Colombians 33%
• Conflict of Interest 33%
• Consent Forms 33%
• Declaration of Helsinki 33%
• Ethical Committee 33%
• Funding Sources 33%
• Gene mutation 33%
• Gene-gene 100%
• Ichthyosis 100%
• Keratin 1 100%
• Keratin Intermediate Filaments 66%
• Keratinocytes 33%
• Keratinopathic Ichthyosis 33%
• Large Joints 33%
• Mendelian Inheritance 33%
• Network Assembly 33%
• None Declared 33%
• Novel mutation 100%
• Palmoplantar Keratoderma 33%
• Plaque 33%
• Protein Level 33%
• Rare Genetic Disease 33%
• Trunk 33%
• Vacuolization 33%
• Verrucous 33%

Medicine and Dentistry

• Binucleated Cells 33%
• Dermatology 33%
• Gene Mutation 33%
• Genetic Disorder 33%
• Ichthyosis 100%
• Index Case 33%
• Intermediate Filament 66%
• Keratin 66%
• Keratin 1 100%
• Keratinocyte 33%
• Mendelian Inheritance 33%
• Palmoplantar Keratoderma 33%
• Vacuolization 33%

Pharmacology, Toxicology and Pharmaceutical Science

• Cytokeratin 1 100%
• Genetic Disorder 33%
• Ichthyosis 100%
• Keratin 66%
• Palmoplantar Keratoderma 33%