Kabuki syndrome revisited
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics(clinical),Genetics
Link
http://www.nature.com/articles/jhg201228.pdf
Reference34 articles.
1. Niikawa, N. et al Kabuki make-up (Niikawa-Kuroki) syndrome: a study of 62 patients. Am. J. Med. Genet. 31, 565–589 (1988).
2. Adam, M.P., Hudgins, L. Kabuki syndrome: a review. Clin. Genet. 67, 209–219 (2005).
3. Ng, S.B. et al Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome. Nat. Genet. 42, 790–793 (2010).
4. Digilio, M.C. et al Congenital heart defects in Kabuki syndrome. Am. J. Med. Genet. 100, 269–274 (2001).
5. Schrander-Stumpel, C. et al The Kabuki (Niikawa-Kuroki) syndrome: further delineation of the phenotype in 29 non-Japanese patients. Eur. J. Pediatr. 153, 438–445 (1994).
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