Neurobehavioral features in individuals with Kabuki syndrome

De novo exonic deletion ofKDM6Ain a Chinese girl with Kabuki syndrome: A case report and brief literature review

(2016) Pu Yang et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Kabuki syndrome: clinical and molecular diagnosis in the first year of life

(2014) Maria Lisa Dentici et al.   ARCHIVES OF DISEASE IN CHILDHOOD

NovelKDM6A(UTX) mutations and a clinical and molecular review of the X-linked Kabuki syndrome (KS2)

(2014) S. Banka et al.   CLINICAL GENETICS

Haploinsufficiency of KDM6A is associated with severe psychomotor retardation, global growth restriction, seizures and cleft palate

(2013) Amelia M. Lindgren et al.   HUMAN GENETICS

Skirting the pitfalls: a clear-cut nomenclature for H3K4 methyltransferases

(2012) N Bögershausen et al.   CLINICAL GENETICS

Unmasking Kabuki syndrome

(2012) N Bögershausen 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

Developmental Profile and Trajectory of Neuropsychological Skills in A Child With Kabuki Syndrome: Implications for Assessment of Syndromes Associated with Intellectual Disability

(2010) Jacqueline H. Sanz et al.   CLINICAL NEUROPSYCHOLOGIST

Kabuki make-up (Niikawa-Kur oki) syndrome: cognitive abilities and autistic features

(2010) Helena H. Ho et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome

(2010) Sarah B Ng et al.   NATURE GENETICS