Condition: KLEEFSTRA SYNDROME 1
rs137852714 in
EHMT1 gene and
KLEEFSTRA SYNDROME 1
PMID 19264732 2009 Further clinical and molecular delineation of the 9q subtelomeric deletion syndrome supports a major contribution of EHMT1 haploinsufficiency to the core phenotype.
PMID 16826528 2006 Loss-of-function mutations in euchromatin histone methyl transferase 1 (EHMT1) cause the 9q34 subtelomeric deletion syndrome.
PMID 22670141 2012 Update on Kleefstra Syndrome.
PMID 26633545 2016 Molecular diagnostic experience of whole-exome sequencing in adult patients.
PMID 27651234 2016 Targeted next generation sequencing of a panel of autism-related genes identifies an EHMT1 mutation in a Kleefstra syndrome patient with autism and normal intellectual performance.