Clinical and Neurobehavioral Features of Three Novel Kabuki Syndrome Patients with Mosaic KMT2D Mutations and a Review of Literature

Mutation Update for Kabuki Syndrome GenesKMT2DandKDM6Aand Further Delineation of X-Linked Kabuki Syndrome Subtype 2

(2016) Nina Bögershausen et al.   HUMAN MUTATION

MLL2mosaic mutations and intragenic deletion-duplications in patients with Kabuki syndrome

(2012) S Banka et al.   CLINICAL GENETICS

Deletion of KDM6A, a Histone Demethylase Interacting with MLL2, in Three Patients with Kabuki Syndrome

(2011) Damien Lederer et al.   AMERICAN JOURNAL OF HUMAN GENETICS

How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum

(2011) Siddharth Banka et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Mutation spectrum of MLL2 in a cohort of kabuki syndrome patients

(2011) Lucia Micale et al.   Orphanet Journal of Rare Diseases

MLL2 mutation spectrum in 45 patients with Kabuki syndrome

(2010) Aimée D. C. Paulussen et al.   HUMAN MUTATION

Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome

(2010) Sarah B Ng et al.   NATURE GENETICS