Clinical and genetic findings in 13 Chinese children with keratinopathic ichthyosis

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 and gene...

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Detalles Bibliográficos
Autores principales: Yang, Zhou, Xu, Zhe, He, Rui, Xiang, Xin, Zhang, Bin, Ma, Lin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2023
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10509410/
https://www.ncbi.nlm.nih.gov/pubmed/37736367
http://dx.doi.org/10.1002/ped4.12391

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