present in Gene: KAT6B;DUPD1
present in Chromosome: 10
Position on Chromosome: 75030015
Alleles of this Variant: -/TGCTGCAGCA
rs199470482 in
KAT6B;DUPD1 gene and
Young Simpson syndrome
PMID 22077973 2011 Whole-exome-sequencing identifies mutations in histone acetyltransferase gene KAT6B in individuals with the Say-Barber-Biesecker variant of Ohdo syndrome.