Survival of a male patient harboring CASK Arg27Ter mutation to adolescence-Reference-Cited by-同舟云学术

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Survival of a male patient harboring CASK Arg27Ter mutation to adolescence

Published:2020-07-21 Issue:10 Volume:8 Page:
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Mol Genet Genomic Med

Author:

Mukherjee Konark¹^ORCID,Patel Paras A.¹,Rajan Deepa S.²,LaConte Leslie E. W.¹,Srivastava Sarika¹³^ORCID

Affiliation:

1. Fralin Biomedical Research Institute at Virginia Tech Carilion Roanoke VA USA

2. Children's Hospital of Pittsburgh of UPMC University of Pittsburgh Pittsburgh PA USA

3. Department of Internal Medicine Virginia Tech Carilion School of Medicine Roanoke VA USA

Funder

National Eye Institute

Publisher

Wiley

Subject

Genetics (clinical),Genetics,Molecular Biology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.1426

Reference35 articles.

1. Redefining the Etiologic Landscape of Cerebellar Malformations

2. Deletion of CASK in mice is lethal and impairs synaptic function

3. Palliative care and neurology: Time for a paradigm shift

4. Spectrum of pontocerebellar hypoplasia in 13 girls and boys with CASK mutations: confirmation of a recognizable phenotype and first description of a male mosaic patient

5. A Tripartite Protein Complex with the Potential to Couple Synaptic Vesicle Exocytosis to Cell Adhesion in Brain

Cited by 11 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. Dissecting CASK: Novel splice site variant associated with male MICPCH phenotype;Clinical Genetics;2024-08-30

2. Genetic evidence for splicing-dependent structural and functional plasticity in CASK protein;Journal of Medical Genetics;2024-04-26

3. Drosophila CASK regulates brain size and neuronal morphogenesis, providing a genetic model of postnatal microcephaly suitable for drug discovery;Neural Development;2023-10-07

4. Calcium/Calmodulin-Dependent Serine Protein Kinase (CASK) Gene Polymorphisms in Pigeons;Animals;2023-06-22

5. Two heterozygous mutations in the calcium/ calmodulin‐dependent serine protein kinase gene ( CASK ) in cases with developmental disorders;Molecular Genetics & Genomic Medicine;2022-09-28

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