Condition: Chromosome 17q21.31 Deletion Syndrome


rs1427624649 in KANSL1 gene and Chromosome 17q21.31 Deletion Syndrome PMID 26424144 2015 Intragenic KANSL1 mutations and chromosome 17q21.31 deletions: broadening the clinical spectrum and genotype-phenotype correlations in a large cohort of patients.

PMID 22544363 2012 Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome.

PMID 22544367 2012 Mutations in KANSL1 cause the 17q21.31 microdeletion syndrome phenotype.

PMID 26633545 2016 Molecular diagnostic experience of whole-exome sequencing in adult patients.