Variant: rs199470477 

    present in Gene: DUPD1;KAT6B
    present in Chromosome: 10
    Position on Chromosome: 75029027
    Alleles of this Variant: CT/-

rs199470477 in DUPD1;KAT6B gene and Genitopatellar 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.

PMID 28696035 2017 Lin-Gettig syndrome: Craniosynostosis expands the spectrum of the KAT6B related disorders.

PMID 25424711 2015 Further delineation of the KAT6B molecular and phenotypic spectrum.

rs199470477 in DUPD1;KAT6B gene and Multiple congenital anomalies PMID 23436491 2013 De novo mutations of the gene encoding the histone acetyltransferase KAT6B in two patients with Say-Barber/Biesecker/Young-Simpson syndrome.

PMID 29226580 2018 A novel truncating variant within exon 7 of KAT6B associated with features of both Say-Barber-Bieseker-Young-Simpson syndrome and genitopatellar syndrome: Further evidence of a continuum in the clinical spectrum of KAT6B-related disorders.

PMID 22715153 2012 The KAT6B-related disorders genitopatellar syndrome and Ohdo/SBBYS syndrome have distinct clinical features reflecting distinct molecular mechanisms.

PMID 22265014 2012 Mutations in KAT6B, encoding a histone acetyltransferase, cause Genitopatellar syndrome.

PMID 28696035 2017 Lin-Gettig syndrome: Craniosynostosis expands the spectrum of the KAT6B related disorders.

PMID 26334766 2015 A recurrent synonymous KAT6B mutation causes Say-Barber-Biesecker/Young-Simpson syndrome by inducing aberrant splicing.

PMID 25424711 2015 Further delineation of the KAT6B molecular and phenotypic spectrum.

PMID 22077973 2011 Whole-exome-sequencing identifies mutations in histone acetyltransferase gene KAT6B in individuals with the Say-Barber-Biesecker variant of Ohdo syndrome.