A de novo in-frame deletion of CASK gene causes early onset infantile spasms and supratentorial cerebral malformation in a female patient-Reference-Cited by-同舟云学术

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A de novo in-frame deletion of CASK gene causes early onset infantile spasms and supratentorial cerebral malformation in a female patient

Published:2018-10-05 Issue:11 Volume:176 Page:2425-2429
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Bozarth Xiuhua¹^ORCID,Foss Kimberly²,Mefford Heather C.³

Affiliation:

1. Department of Neurology; Seattle Children's Hospital, University of Washington; Seattle Washington

2. Department of Genetics; Seattle Children's Hospital; Seattle Washington

3. Division of Genetic Medicine, Department of Pediatrics; University of Washington; Seattle Washington

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.40429/fullpdf

Reference23 articles.

1. 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

2. Postsynaptic targeting of alternative postsynaptic density-95 isoforms by distinct mechanisms;Chetkovich;The Journal of Neuroscience,2002

3. Prevalence and architecture of de novo mutations in developmental disorders;Deciphering Developmental Disorders Study;Nature,2017

4. A de novo slice site mutation in CASK causes FG syndrome-4 and congenital nystagmus;Dunn;American Journal of Medical Genetics. Part A,2017

5. Detection of genomic copy number changes in patients with idiopathic mental retardation by high-resolution X-array-CGH: Important role for increased gene dosage of XLMR genes;Froyen;Human Mutation,2007

Cited by 7 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. Diverse Clinical Phenotypes of CASK-Related Disorders and Multiple Functional Domains of CASK Protein;Genes;2023-08-20

2. CASK Mutation in an Infant with Microcephaly, Pontocerebellar Hypoplasia, and Hearing Loss;Annals of Child Neurology;2022-10-01

3. A de novo variant in CASK gene causing intellectual disability and brain hypoplasia: a case report and literature review;Italian Journal of Pediatrics;2022-05-12

4. The Non-Linear Path from Gene Dysfunction to Genetic Disease: Lessons from the MICPCH Mouse Model;Cells;2022-03-28

5. Microcephaly, disproportionate pontine, and cerebellar hypoplasia syndrome: Two novel mutations in the CASK gene were discovered in Chinese females;International Journal of Developmental Neuroscience;2021-03-05

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