Enhancing Genotype–Phenotype Correlation in Pediatric PKU: A Comparative Analysis of Hotspot Mutations and Prediction Models Across 12 Chinese Regions

Genetic Testing and Molecular Biomarkers · Published 2026-07-14 · DOI 10.1177/19450265261440180

Authors (7)

Li Zhang, Jie Ren, Jilong Su, Wenjuan Kang, Ke Dai, Xinhua Zhang, Hanzhou Guan

Abstract

PubPorta does not have an abstract for this article yet.

Read the article at the publisher →

Publication details

Year

2026

Citation

Zhang, L., Ren, J., Su, J., et al. (2026). Enhancing Genotype–Phenotype Correlation in Pediatric PKU: A Comparative Analysis of Hotspot Mutations and Prediction Models Across 12 Chinese Regions. Genetic Testing and Molecular Biomarkers. https://doi.org/10.1177/19450265261440180

Related articles

• Reclaiming Genomics: Privacy, Direct-to-Consumer Genetic Testing, and the Revolution We Still Need · Genetic Testing and Molecular Biomarkers · 2025 · Same journal
• Diagnostic Potential of lncRNA AC073352.1 and YBX1 as Biomarkers for Breast Cancer Detection · Genetic Testing and Molecular Biomarkers · 2025 · Same journal
• Identification of Key Genes and Clinical Feature Analyses of Epidermal Growth Factor Receptor Mutations in Lung Adenocarcinoma · Genetic Testing and Molecular Biomarkers · 2026 · Same journal
• ICF Syndrome in Chinese Children: Four Case Reports with Novel Mutations · Genetic Testing and Molecular Biomarkers · 2026 · Same journal
• Association Analysis of Four Single Nucleotide Polymorpism(SNP) Variants of the Toll-Like Receptor 4 (TLR4) Gene and Gout in Males of Bai Minority from Dali Prefecture, Yunnan Province, Southwest China · Genetic Testing and Molecular Biomarkers · 2025 · Same journal
• Spectrum and Frequencies of Genes for Inherited Hearing Loss in Southwestern Chinese Families · Genetic Testing and Molecular Biomarkers · 2025 · Same journal
• Insights into the Regulatory Roles of lncRNAs and circRNAs in Intervertebral Disk Degeneration: A Review · Genetic Testing and Molecular Biomarkers · 2025 · Same journal
• Expanding the Phenotypic Spectrum of Trafficking Protein Particle Complex Subunit 9-Related Intellectual Developmental Disorder: Prader–Willi-like Presentation in a Tunisian Family · Genetic Testing and Molecular Biomarkers · 2026 · Same journal
• Comprehensive Expression Profiles of mRNAs, LncRNAs, and CircRNAs in the Colon Specimens of Patients with Slow Transit Constipation · Genetic Testing and Molecular Biomarkers · 2025 · Same journal
• The Expression Profile of microRNA Genes and NT-proBNP as Possible Predictors of One-Year Mortality in Egyptian Adults with Acute Heart Failure: A Prospective Biomarker Study · Genetic Testing and Molecular Biomarkers · 2026 · Same journal