Two Novel Mutations (c.883-4_890del and c.1684C>G) of WDR62 Gene Associated With Autosomal Recessive Primary Microcephaly: A Case Report
Author:
Publisher
Frontiers Media SA
Subject
Pediatrics, Perinatology, and Child Health
Reference28 articles.
1. Primary microcephaly: do all roads lead to Rome?;Thornton;Trends Genet,2009
2. A novel WDR62 mutation causes primary microcephaly in a large consanguineous Saudi family;Naseer;Ann Saudi Med,2017
3. A novel mutation of WDR62 gene associated with severe phenotype including infantile spasm, microcephaly, and intellectual disability;Nardello;Brain Dev,2018
4. A novel single base pair duplication in WDR62 causes primary microcephaly;Rupp;BMC Med Genet,2014
5. A novel WDR62 missense mutation in microcephaly with abnormal cortical architecture and review of the literature;Zombor;J Appl Genet,2019
Cited by 6 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. Autosomal recessive primary microcephaly type 2 associated with a novel WDR62 splicing variant that disrupts the expression of the functional transcript;Frontiers in Neurology;2024-03-21
2. Neurological outcome in WDR62 primary microcephaly;Developmental Medicine & Child Neurology;2021-09-25
3. Further Delineation of Phenotype and Genotype of Primary Microcephaly Syndrome with Cortical Malformations Associated with Mutations in the WDR62 Gene;Genes;2021-04-19
4. Dissecting the Genetic and Etiological Causes of Primary Microcephaly;Frontiers in Neurology;2020-10-15
5. The Spindle-Associated Microcephaly Protein, WDR62, Is Required for Neurogenesis and Development of the Hippocampus;Frontiers in Cell and Developmental Biology;2020-09-11
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