Associated Papers
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
Ultrasound combined with molecular genetics to diagnose hereditary Renpenning syndrome in early pregnancy: a case report.
Shen Y et al.
Frontiers in Genetics, 2025
Role of PQBP1 in Pathogen Recognition-Impact on Innate Immunity.
Wiench L et al.
Viruses, 2024
Molecular consequences of PQBP1 deficiency, involved in the X-linked Renpenning syndrome.
Courraud J et al.
Molecular Psychiatry, 2024
The role of PQBP1 in neural development and function.
Cheng S et al.
Biochemical Society Transactions, 2023
A mild clinical and neuropsychological phenotype of Renpenning syndrome: A new case report with a maternally inherited PQBP1 missense mutation.
Lopez-Martín S et al.
Applied Neuropsychology. Child, 0
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