Renpenning syndrome related to a missense variant in polyglutamine-binding protein 1 (PQBP1): Two pediatric cases from a Chinese family and literature review
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Renpenning syndrome is a rare X-linked intellectual disability (XLID) caused by mutations in the polyglutamine-binding protein 1 (PQBP1) gene. Current understanding of its clinical features and pathogenesis remains limited, especially neuropsychological profil... ...
