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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...
Autores principales: | , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
John Wiley and Sons Inc.
2023
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Materias: | |
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 |