Associated Papers
Biallelic Deletion of PEX26 Exon 4 in a Boy with Phenotypic Features of both Zellweger Syndrome and Infantile Refsum Disease.
Yalçınkaya B et al.
Molecular Syndromology, 2024
Identification of a novel heterozygous variant in the PEX26 gene in an infant: a case report.
Huang Y et al.
Translational Pediatrics, 2024
Genetic background and clinical characteristics of infantile hyperammonemia.
Li M et al.
Translational Pediatrics, 2023
Delineation of a KDM2B-related neurodevelopmental disorder and its associated DNA methylation signature.
van Jaarsveld RH et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2023
36322151 (PubMed )
Supplement: NIHMS1860492-supplement-Supplemental_Table_1.xlsx › clinical_table
Adrenal Insufficiency in Peroxisomal Disorders: A Single Institution Case Series.
Gagnon C et al.
Hormone Research in Paediatrics, 2023
PEX26 gene genotype-phenotype correlation in neonates with Zellweger syndrome.
He Y et al.
Translational Pediatrics, 2021
Clinical utility in infants with suspected monogenic conditions through next-generation sequencing.
Hong S et al.
Molecular Genetics & Genomic Medicine, 2019
Select a paper to view details