ArticlePediatric investigation2023
Clinical and genetic findings in 13 Chinese children with keratinopathic ichthyosis.
Article in Pediatric investigation, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
2 citing papers in PubMed, 4 citations in OpenAlex.
- Association analysis of PAEP, KRT10, and BMP7 genes SNPs with reproductive traits in Kele pigs.PloS one · 2025Article
- Clinical and genetic findings in 13 Chinese children with keratinopathic ichthyosis.Pediatric investigation · 2023Article
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Authors and funding
6 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Importance: Keratinopathic ichthyosis (KPI) represents a group of predominantly autosomal dominant genodermatoses resulting from mutations in the Objective: To analyze the clinical manifestations and gene mutations in Chinese patients with KPI. Methods: Clinical data were collected from 13 children diagnosed with KPI, and peripheral blood DNA samples were extracted from both the patients and their parents Next-generation sequencing was performed using a congenital ichthyosis multi-gene panel, and the selected variants in the patients and their parents were further validated using the Sanger sequencing method. Results: Genetic analysis identified missense mutations in either Interpretation: We analyzed the genotype-phenotype correlations in KPI, revealing that the types and locations of different mutations are associated with distinct phenotypic characteristics. Oral acitretin could be considered a treatment option for severe patients at an appropriate dosage and timing.
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