Whole gene duplication of the PQBP1 gene in syndrome resembling Renpenning
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.33756/fullpdf
Reference7 articles.
1. Pure de-novo 5 Mb duplication at Xp11.22-p11.23 in a male: Phenotypic and molecular characterization;Bonnet;J Hum Genet,2006
2. Skewed X-inactivation in a family with mental retardation and PQBP1 gene mutation;Fichera;Clin Genet (Letter),2005
3. Loss of SLC38A5 and FTSJ1 at Xp11.23 in three brothers with non-syndromic mental retardation due to a microdeletion in an unstable genomic region;Froyen;Hum Genet,2007
4. Genotype-phenotype studies in three families with mutations in the polyglutamine-binding protein 1 gene (PQBP1);Kleefstra;Clin Genet,2004
5. Renpenning syndrome maps to Xp11;Stevenson;Am J Hum Genet,1998
Cited by 12 articles. 订阅此论文施引文献 订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献
1. The role of PQBP1 in neural development and function;Biochemical Society Transactions;2023-02-23
2. PQBP1: The Key to Intellectual Disability, Neurodegenerative Diseases, and Innate Immunity;International Journal of Molecular Sciences;2022-06-02
3. A mild clinical and neuropsychological phenotype of Renpenning syndrome: A new case report with a maternally inherited PQBP1 missense mutation;Applied Neuropsychology: Child;2021-09-01
4. Xp11.2 Duplication in Females: Unique Features of a Rare Copy Number Variation;Frontiers in Genetics;2021-04-14
5. PQBP1 promotes translational elongation and regulates hippocampal mGluR-LTD by suppressing eEF2 phosphorylation;Molecular Cell;2021-04
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