Clinical and genetic findings in 13 Chinese children with keratinopathic ichthyosis

• Hauptverfasser: Zhou Yang (VerfasserIn), Zhe Xu (VerfasserIn), Rui He (VerfasserIn), Xin Xiang (VerfasserIn), Bin Zhang (VerfasserIn), Lin Ma (VerfasserIn)
• Format: Buch
• Veröffentlicht: Wiley, 2023-09-01T00:00:00Z.
• Schlagworte: article
• Online-Zugang: Connect to this object online.

ABSTRACT Importance Keratinopathic ichthyosis (KPI) represents a group of predominantly autosomal dominant genodermatoses resulting from mutations in the KRT1, KRT2, or KRT10 genes. In KPI, the relationship between genotype and phenotype is complex. Objective To analyze the clinical manifestations a...