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
Renpenning Syndrome in a Turkish Patient: de novo Variant c.607C>T in PACS1 and Hypogammaglobulinemia Phenotype.
Kurt Colak F et al.
Molecular Syndromology, 2020
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