Nonimmune Hydrops and Left-Sided Cardiac Defect: Prenatal Presentation of Kabuki Syndrome
Author:
Affiliation:
1. *Division of Maternal-Fetal Medicine, Department of Obstetrics, Gynecology, and Reproductive Sciences, University of Maryland School of Medicine, Baltimore, MD
2. †Morsani College of Medicine, University of South Florida, Tampa, FL
Publisher
American Academy of Pediatrics (AAP)
Link
https://publications.aap.org/neoreviews/article-pdf/25/6/e385/1652507/neoreviews.122023cfc00209.pdf
Reference19 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 syndrome of mental retardation, unusual facies, large and protruding ears, and postnatal growth deficiency;Niikawa;J Pediatr,1981
3. Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome;Ng;Nat Genet,2010
4. Deletion of KDM6A, a histone demethylase interacting with MLL2, in three patients with Kabuki syndrome;Lederer;Am J Hum Genet,2012
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