Publisher
Springer Science and Business Media LLC
Subject
Genetics(clinical),Genetics
Reference27 articles.
1. Niikawa N, Matsuura N, Fukushima Y, Ohsawa T, Kajii T. Kabuki make-up syndrome: a syndrome of mental retardation, unusual facies, large and protruding ears, and postnatal growth deficiency. J Pediatr. 1981;99:565–9.
2. Niikawa N, Kuroki Y, Kajii T, Matsuura N, Ishikiriyama S, Tonoki H, et al. Kabuki make-up (Niikawa Kuroki) syndrome: A study of 62 patients. Am J Med Genet. 1988;31:565–89.
3. Chengqi X, Chun W, Yachen W, Jingyuan Z, Liang W, Liang W, et al. Identification of novel KMT2D mutations in two Chinese children with kabuki syndrome: a case report and systematic literature review. BMC Med Genet. 2018;19:31.
4. Kawame H, Hannibal MC, Hudgins L, Pagon RA. Phenotypic spectrum and management issues in kabuki syndrome. J Pediatr. 1999;134:480–5.
5. Ewart-Toland A, Enns GM, Cox VA, Mohan GC, Rosenthal P, Golabi M. Severe congenital anomalies requiring transplantation in children with kabuki syndrome. Am J Med Genet. 1998;80:362–7.
Cited by
14 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