A mild clinical and neuropsychological phenotype of Renpenning syndrome: A new case report with a maternally inherited PQBP1 missense mutation-Reference-Cited by-同舟云学术

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

Published:2021-09-01 Issue: Volume: Page:1-7
ISSN:2162-2965
Container-title:Applied Neuropsychology: Child
language:en
Short-container-title:Applied Neuropsychology: Child

Author:

Lopez-Martín Sara¹²,Albert Jacobo¹,Peña Vila-Belda Mᵃ del Mar³,Liu Xian⁴,Zhang Zi-Chao⁴,Han Junhai⁴,Jiménez de Domingo Ana⁵,Fernández-Mayoralas Daniel Martín⁵,Fernández-Perrone Ana Laura⁵,Calleja-Pérez Beatriz⁶,Álvarez Sara³,Fernández-Jaén Alberto⁵⁷

Affiliation:

1. Faculty of Psychology, Universidad Autónoma de Madrid, Madrid, Spain

2. Neuromottiva, Madrid, Spain

3. Genomics and Medicine, NIMGenetics, Madrid, Spain

4. Institute of Life Sciences, Key Laboratory of Developmental Genes and Human Disease, Southeast University, Nanjing, China

5. Department of Pediatric Neurology, Hospital Universitario Quirónsalud, Madrid, Spain

6. Pediatric Primary Care, C. S. Doctor Cirajas, Madrid, Spain

7. School of Medicine, Universidad Europea, Madrid, Spain

Publisher

Informa UK Limited

Subject

Developmental and Educational Psychology,Neuropsychology and Physiological Psychology

Link

https://www.tandfonline.com/doi/pdf/10.1080/21622965.2021.1970551

Reference45 articles.

1. Diagnostic and Statistical Manual of Mental Disorders

2. The genetics and neurobiology of ESSENCE: The third Birgit Olsson lecture

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2. The role of PQBP1 in neural development and function;Biochemical Society Transactions;2023-02-23

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