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

Spectrum of MLL2 (ALR) mutations in 110 cases of Kabuki syndrome

(2011) Mark C. Hannibal et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

A mutation screen in patients with Kabuki syndrome

(2011) Yun Li et al.   HUMAN GENETICS

Mutation spectrum of MLL2 in a cohort of kabuki syndrome patients

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

Mixed lineage leukemia: roles in gene expression, hormone signaling and mRNA processing

(2010) Khairul I. Ansari et al.   FEBS Journal

MLL2 mutation spectrum in 45 patients with Kabuki syndrome

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

Developmental delay and connective tissue disorder in four patients sharing a common microdeletion at 6q13-14

(2010) H. Van Esch et al.   JOURNAL OF MEDICAL GENETICS

Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome

(2010) Sarah B Ng et al.   NATURE GENETICS

Low-grade fibromyxoid sarcoma: yet another malignancy associated with Kabuki syndrome

(2009) Raveen Shahdadpuri et al.   CLINICAL DYSMORPHOLOGY

Further evidence of dominant inheritance of Kabuki syndrome

(2009) Caroline C. Pottinger et al.   CLINICAL DYSMORPHOLOGY