Clinical and radiological features of Japanese patients with a severe phenotype due toCASKmutations-Reference-Cited by-同舟云学术

Clinical and radiological features of Japanese patients with a severe phenotype due toCASKmutations

Published:2012-11-19 Issue:12 Volume:158A Page:3112-3118
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Takanashi Jun-ichi,Okamoto Nobuhiko,Yamamoto Yuto,Hayashi Shin,Arai Hiroshi,Takahashi Yukitoshi,Maruyama Koichi,Mizuno Seiji,Shimakawa Shuichi,Ono Hiroaki,Oyanagi Reiki,Kubo Satomi,Barkovich A. James,Inazawa Johji

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.35640/fullpdf

Reference11 articles.

1. CASK mutations are frequent in males and cause X-linked nystagmus and variable XLMR phenotypes;Hackett;Eur J Hum Genet,2010

2. The CASK gene harbored in a deletion detected by array-CGH as a potential candidate for a gene causative of X-linked dominant mental retardation;Hayashi;Am J Med Genet Part A,2008

3. Novel intragenic duplications and mutations of CASK in patients with mental retardation and microcephaly with pontine and cerebellar hypoplasia (MICPCH);Hayashi;Hum Genet,2012

4. The role of the MAGUK protein CASK in neural development and synaptic function;Hsueh;Curr Med Chem,2006

5. Calcium/calmodulin-dependent serine protein kinase and mental retardation;Hsueh;Ann Neurol,2009

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