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
The role of PQBP1 in neural development and function.
Cheng S et al.
Biochemical Society Transactions, 2023
First Korean Case of Renpenning Syndrome with Novel Mutation in PQBP1 Diagnosed by Targeted Exome Sequencing, and Literature Review.
Jeong HI et al.
Annals of Clinical and Laboratory Science, 2018
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