Condition: Kabuki make-up syndrome
rs1555044700 in
KMT2A gene and
Kabuki make-up syndrome
PMID 29255178 2017 Patients with a Kabuki syndrome phenotype demonstrate DNA methylation abnormalities.
rs1057516039 in
KMT2D gene and
Kabuki make-up syndrome
PMID 26938784 2016 A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.
PMID 27302555 2016 Mutation Update for Kabuki Syndrome Genes KMT2D and KDM6A and Further Delineation of X-Linked Kabuki Syndrome Subtype 2.
PMID 23913813 2013 MLL2 and KDM6A mutations in patients with Kabuki syndrome.
PMID 22126750 2012 How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum.
PMID 21280141 2011 MLL2 mutation spectrum in 45 patients with Kabuki syndrome.
PMID 21607748 2011 A mutation screen in patients with Kabuki syndrome.
PMID 20711175 2010 Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome.
PMID 21658225 2011 Mutation spectrum of MLL2 in a cohort of Kabuki syndrome patients.
PMID 21671394 2011 Spectrum of MLL2 (ALR) mutations in 110 cases of Kabuki syndrome.
PMID 23320472 2013 MLL2 mutation detection in 86 patients with Kabuki syndrome: a genotype-phenotype study.
PMID 24739679 2014 Identification of KMT2D and KDM6A mutations by exome sequencing in Korean patients with Kabuki syndrome.
PMID 29255178 2017 Patients with a Kabuki syndrome phenotype demonstrate DNA methylation abnormalities.
PMID 25972376 2015 Kabuki syndrome genes KMT2D and KDM6A: functional analyses demonstrate critical roles in craniofacial, heart and brain development.
PMID 19625956 2009 Further evidence of dominant inheritance of Kabuki syndrome.
PMID 24633898 2014 Molecular analysis, pathogenic mechanisms, and readthrough therapy on a large cohort of Kabuki syndrome patients.
PMID 26512256 2015 Kabuki syndrome: clinical and molecular characteristics.
PMID 26300940 2015 The strong association of left-side heart anomalies with Kabuki syndrome.
PMID 28295206 2017 Molecular, clinical and neuropsychological study in 31 patients with Kabuki syndrome and KMT2D mutations.
PMID 28884922 2017 Congenital heart defects in molecularly proven Kabuki syndrome patients.
PMID 25755104 2015 Speech and language in a genotyped cohort of individuals with Kabuki syndrome.