Article
A mild clinical and neuropsychological phenotype of Renpenning syndrome: A new case report with a maternally inherited PQBP1 missense mutation.
Applied neuropsychology. Child - 1 Jan 2000
Lopez-Martín Sara, Albert Jacobo, Peña Vila-Belda Mᵃ Del Mar, Liu Xian, Zhang Zi-Chao, Han Junhai, Jiménez de Domingo Ana, Fernández-Mayoralas Daniel Martín, Fernández-Perrone Ana Laura, Calleja-Pérez Beatriz, Álvarez Sara, Fernández-Jaén Alberto
Abstract excerpt
Mutations in the PQBP1 gene are associated with Renpenning syndrome (RENS1, MIM# 309500). Most cases are characterized by intellectual disability, but a detailed neuropsychological profile has not yet been established. The present case study of a 8.5 years-old male child with a missense novel mutation in the PQBP1 gene expands existing understanding of this syndrome by presenting a milder clinical and...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.