Phenotypic and molecular insights into CASK-related disorders in males-Reference-Cited by-同舟云学术

Phenotypic and molecular insights into CASK-related disorders in males

Published:2015-04-12 Issue:1 Volume:10 Page:
ISSN:1750-1172
Container-title:Orphanet Journal of Rare Diseases
language:en
Short-container-title:Orphanet J Rare Dis

Author:

Moog Ute,Bierhals Tatjana,Brand Kristina,Bautsch Jan,Biskup Saskia,Brune Thomas,Denecke Jonas,de Die-Smulders Christine E,Evers Christina,Hempel Maja,Henneke Marco,Yntema Helger,Menten Björn,Pietz Joachim,Pfundt Rolph,Schmidtke Jörg,Steinemann Doris,Stumpel Constance T,Van Maldergem Lionel,Kutsche Kerstin

Publisher

Springer Science and Business Media LLC

Subject

Pharmacology (medical),Genetics(clinical),General Medicine

Link

http://link.springer.com/content/pdf/10.1186/s13023-015-0256-3.pdf

Reference27 articles.

1. Najm J, Horn D, Wimplinger I, Golden JA, Chizhikov VV, Sudi J, et al. Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum. Nat Genet. 2008;40:1065–7.

2. Burglen L, Chantot-Bastaraud S, Garel C, Milh M, Touraine R, Zanni G, et al. 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. Orphanet J Rare Dis. 2012;7:18.

3. Hayashi S, Okamoto N, Chinen Y, Takanashi J, Makita Y, Hata A, et al. Novel intragenic duplications and mutations of CASK in patients with mental retardation and microcephaly with pontine and cerebellar hypoplasia (MICPCH). Hum Genet. 2012;131:99–110.

4. Moog U, Kutsche K, Kortüm F, Chilian B, Bierhals T, Apeshiotis N, et al. Phenotypic spectrum associated with CASK loss-of-function mutations. J Med Genet. 2011;48:741–51.

5. Takanashi J, Okamoto N, Yamamoto Y, Hayashi S, Arai H, Takahashi Y, et al. Clinical and radiological features of Japanese patients with a severe phenotype due to CASK mutations. Am J Med Genet. 2012;158A:3112–8.

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