A mild clinical and neuropsychological phenotype of Renpenning syndrome: A new case report with a maternally inherited PQBP1 missense mutation.

Autor: Lopez-Martín S; Faculty of Psychology, Universidad Autónoma de Madrid, Madrid, Spain.; Neuromottiva, Madrid, Spain., Albert J; Faculty of Psychology, Universidad Autónoma de Madrid, Madrid, Spain., Peña Vila-Belda MDM; Genomics and Medicine, NIMGenetics, Madrid, Spain., Liu X; Institute of Life Sciences, Key Laboratory of Developmental Genes and Human Disease, Southeast University, Nanjing, China., Zhang ZC; Institute of Life Sciences, Key Laboratory of Developmental Genes and Human Disease, Southeast University, Nanjing, China., Han J; Institute of Life Sciences, Key Laboratory of Developmental Genes and Human Disease, Southeast University, Nanjing, China., Jiménez de Domingo A; Department of Pediatric Neurology, Hospital Universitario Quirónsalud, Madrid, Spain., Fernández-Mayoralas DM; Department of Pediatric Neurology, Hospital Universitario Quirónsalud, Madrid, Spain., Fernández-Perrone AL; Department of Pediatric Neurology, Hospital Universitario Quirónsalud, Madrid, Spain., Calleja-Pérez B; Pediatric Primary Care, C. S. Doctor Cirajas, Madrid, Spain., Álvarez S; Genomics and Medicine, NIMGenetics, Madrid, Spain., Fernández-Jaén A; Department of Pediatric Neurology, Hospital Universitario Quirónsalud, Madrid, Spain.; School of Medicine, Universidad Europea, Madrid, Spain.

Publikováno v: Applied neuropsychology. Child [Appl Neuropsychol Child] 2022 Oct-Dec; Vol. 11 (4), pp. 921-927. Date of Electronic Publication: 2021 Sep 01.