Condition: Genitopatellar Syndrome


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.

rs1564632652 in KAT6B;DUPD1 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.