Gene-Targeted Next-Generation Sequencing Identifies a Novel CLDN1 Mutation in a Consanguineous Family With NISCH Syndrome

MeSH terms

• Alopecia / diagnosis*
• Alopecia / genetics*
• Child
• Cholangitis, Sclerosing / diagnosis*
• Cholangitis, Sclerosing / genetics*
• Claudin-1 / deficiency*
• Claudin-1 / genetics
• Female
• High-Throughput Nucleotide Sequencing
• Humans
• Ichthyosis / diagnosis*
• Ichthyosis / genetics*
• Infant
• Leukocyte Disorders / diagnosis*
• Leukocyte Disorders / genetics*
• Male
• Mutation / genetics*
• Pedigree