Condition: AU-KLINE SYNDROME


rs1564063967 in HNRNPK gene and AU-KLINE SYNDROME PMID 28771707 2017 A case of atypical Kabuki syndrome arising from a novel missense variant in HNRNPK.

PMID 26173930 2015 GeneMatcher aids in the identification of a new malformation syndrome with intellectual disability, unique facial dysmorphisms, and skeletal and connective tissue abnormalities caused by de novo variants in HNRNPK.

PMID 26954065 2016 A de novo frameshift in HNRNPK causing a Kabuki-like syndrome with nodular heterotopia.

rs1554698681 in MIR7-1;HNRNPK gene and AU-KLINE SYNDROME PMID 28374925 2018 Clinical spectrum of Kabuki-like syndrome caused by HNRNPK haploinsufficiency.