Integrated facial analysis and targeted sequencing identifies a novel KDM6A pathogenic variant resulting in Kabuki syndrome
Author:
Publisher
Ovid Technologies (Wolters Kluwer Health)
Subject
General Medicine
Reference34 articles.
1. Kabuki make-up syndrome: a syndrome of mental retardation, unusual facies, large and protruding ears, and postnatal growth deficiency;Niikawa;J Pediatr,1981
2. A new malformation syndrome of long palpebral fissures, large ears, depressed nasal tip, and skeletal anomalies associated with postnatal dwarfism and mental retardation;Kuroki;J Pediatr,1981
3. Persistent hyperinsulinism in Kabuki syndrome 2: case report and literature review;Gole;Clin Pract,2016
4. Kabuki syndrome genes KMT2D and KDM6A: functional analyses demonstrate critical roles in craniofacial, heart and brain development;Van Laarhoven;Hum Mol Genet,2015
5. Novel KDM6A (UTX) mutations and a clinical and molecular review of the X-linked Kabuki syndrome (KS2);Banka;Clin Genet,2015
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