Kabuki syndrome in a girl with mosaic 45,X/47,XXX and aortic coarctation
Author:
Publisher
Elsevier BV
Subject
Obstetrics and Gynaecology,Reproductive Medicine
Reference25 articles.
1. Kabuki make-up (Niikawa-Kuroki) syndrome: a study of 62 patients;Niikawa;Am J Med Genet,1988
2. Kabuki make-up syndrome: a review;Matsumoto;Am J Med Genet,2003
3. Kabuki make-up syndrome: a syndrome of mental retardation, unusual facies, large and protruding ears, and postnatal growth deficiency;Niikawa;J Pediatr,1981
4. Partial 6q monosomy/partial 12q trisomy in a child with features of Kabuki make-up syndrome;Jardine;Clin Dysmorphol,1993
5. Kabuki (Niikawa-Kuroki) syndrome and paracentric inversion of the short arm of chromosome 4;Fryns;Am J Med Genet,1994
Cited by 9 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
1. A Rare Karyotype of Turner Syndrome: 45.X/47.XXX;Güncel Pediatri;2014-04-01
2. Low-level hyperinsulinism with hypoglycemic spells in an infant with mosaic Turner syndrome and mild Kabuki-like phenotype: a case report and review of the literature;Journal of Pediatric Endocrinology and Metabolism;2014-01-01
3. Prenatal diagnosis of de novo partial trisomy 18p and partial monosomy 18q recurrent in a family with fatal aortic coarctation;Gene;2013-03
4. Unmasking Kabuki syndrome;Clinical Genetics;2013-03
5. Kabuki syndrome revisited;Journal of Human Genetics;2012-03-22
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