9q33.3q34.11 microdeletion: new contiguous gene syndrome encompassing STXBP1, LMX1B and ENG genes assessed using reverse phenotyping
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics
Link
https://www.nature.com/articles/ejhg2015202.pdf
Reference25 articles.
1. Saitsu H, Kato M, Mizuguchi T et al: De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy. Nat Genet 2008; 40: 782–788.
2. Tohyama J, Akasaka N, Osaka H et al: Early onset West syndrome with cerebral hypomyelination and reduced cerebral white matter. Brain Dev 2008; 30: 349–355.
3. Saitsu H, Kato M, Shimono M et al: Association of genomic deletions in the STXBP1 gene with Ohtahara syndrome. Clin Genet 2012; 81: 399–402.
4. Campbell IM, Yatsenko SA, Hixson P et al: Novel 9q34.11 gene deletions encompassing combinations of four Mendelian disease genes: STXBP1, SPTAN1, ENG, and TOR1A. Genet Med 2012; 14: 868–876.
5. Matsumoto H, Zaha K, Nakamura Y, Hayashi S, Inazawa J, Nonoyama S : Chromosome 9q33q34 microdeletion with early infantile epileptic encephalopathy, severe dystonia, abnormal eye movements, and nephroureteral malformations. Pediatr Neurol 2014; 51: 170–175.
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