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2 resultsUpdated October 24, 2026

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1

Renpenning syndrome related to a missense variant in polyglutamine-binding protein 1 (PQBP1): Two pediatric cases from a Chinese family and literature review

Applied Neuropsychology Child (2025)

Jianwei Pan; Hanbin Chia; Julia Kusnadi; Zhongyue Li; Lin Yu

2

Renpenning syndrome caused by the c.459_462delAGAG mutation in PQBP1: a case report and literature review

Frontiers in Genetics 17 (2026)

Mengting Zhang; Mengli Liu; Rongrong Wang; Fuxiang Ma; Guoshun Mao