Variant: rs1280482569 

    present in Gene: DOCK6;LOC105372273
    present in Chromosome: 19
    Position on Chromosome: 11211990
    Alleles of this Variant: ACC/-

rs1280482569 in DOCK6;LOC105372273 gene and Dysmorphic features PMID 23522784 2013 Mutations in EOGT confirm the genetic heterogeneity of autosomal-recessive Adams-Oliver syndrome.

PMID 25724810 2015 Exome sequencing unravels unexpected differential diagnoses in individuals with the tentative diagnosis of Coffin-Siris and Nicolaides-Baraitser syndromes.

PMID 28160419 2017 Adams-Oliver syndrome review of the literature: Refining the diagnostic phenotype.

PMID 25824905 2015 DOCK6 mutations are responsible for a distinct autosomal-recessive variant of Adams-Oliver syndrome associated with brain and eye anomalies.

PMID 28884918 2017 Adams-Oliver Syndrome Type 2 in Association with Compound Heterozygous DOCK6 Mutations.