A three generation X-linked family with Kabuki syndrome phenotype and a frameshift mutation in KDM6A

Lederer D, Shears D, Benoit V, Verellen-Dumoulin C, Maystadt I. A three generation X-linked family with Kabuki syndrome phenotype and a frameshift mutation in KDM6A. Am J Med Genet A. 2014 May;164A(5):1289-92.

PubMed ID: 
24664873