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  5. Frameshift Mutation in Polar Rich Domain (PRD) of PQBP1 Gene Associated with Asymmetric Cerebellar Hemispheres: A Case Report of Renpenning Syndrome
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Innovative Journal of Pediatrics

The Scientific Journal of Growth & Development Research Center

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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

- 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

- Mengting Zhang

- Mengli Liu

- Rongrong Wang

- Fuxiang Ma

- Guoshun Mao

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