Associated Papers
Exome Study of Single Nucleotide Variations in Patients with Syndromic and Non-Syndromic Autism Reveals Potential Candidate Genes for Diagnostics and Novel Single Nucleotide Variants.
Belenska-Todorova L et al.
Cells, 2025
Renpenning syndrome related to a missense variant in polyglutamine-binding protein 1 (PQBP1): Two pediatric cases from a Chinese family and literature review.
Pan J et al.
Applied Neuropsychology. Child, 2025
Identifying pathogenic variants in rare pediatric neurological diseases using exome sequencing.
Komatsu K et al.
Scientific Reports, 2024
39433808 (PubMed )
Supplement: 41598_2024_75020_MOESM2_ESM.xlsx › Supplementary_Table_S1
The role of PQBP1 in neural development and function.
Cheng S et al.
Biochemical Society Transactions, 2023
Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders.
Levy MA et al.
Hgg Advances, 2022
35047860 (PubMed )
Supplement: mmc2.xlsx › Table_S1_samples
Phenotypic and molecular insights into PQBP1-related intellectual disability.
Abdel-Salam GMH et al.
American Journal of Medical Genetics. Part A, 2018
The Renpenning syndrome spectrum: new clinical insights supported by 13 new PQBP1-mutated males.
Germanaud D et al.
Clinical Genetics, 2011
A novel frame shift mutation in the PQBP1 gene identified in a Tunisian family with X-linked mental retardation.
Rejeb I et al.
European Journal of Medical Genetics, 0
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