Punctate Palmoplantar Keratoderma Type 1: A Novel AAGAB Mutation and Efficacy of Etretinate

Keyphrases

• GatCAB 100%
• Punctate Palmoplantar Keratoderma Type 1 100%
• Etretinate 100%
• Null mutation 33%
• Scottish 16%
• Gain-of-function mutation 16%
• Binding Protein 16%
• Palmoplantar Keratoderma 16%
• Linkage Analysis 16%
• Papules 16%
• Irish English 16%
• Null Variants 16%
• Haploinsufficiency 16%
• Punctate 16%
• Japanese Population 16%
• Vesicular Transport 16%
• Early Adolescence 16%
• Phenotypic Variation 16%
• Palmar Skin 16%
• Adaptin 16%
• Clathrin-mediated 16%
• Whole Exome Sequencing 16%
• Buschke 16%
• Mexican Population 16%
• Plantar Skin 16%
• Hyperkeratotic Papules 16%
• Japanese Case 16%
• Rare Forms 16%

Medicine and Dentistry

• Palmoplantar Keratoderma 100%
• Etretinate 100%
• Papule 66%
• Linkage Analysis 33%
• Loss of Function Mutation 33%
• Protein Binding 33%
• Haploinsufficiency 33%
• Clathrin 33%
• Exome Sequencing 33%
• Phenotypic Variation 33%
• Transport Vesicle 33%