Variant: rs568049240 

    present in Gene: LOC105372273;DOCK6
    present in Chromosome: 19
    Position on Chromosome: 11213187
    Alleles of this Variant: C/A;T

rs568049240 in LOC105372273;DOCK6 gene and Dysmorphic features PMID 28884918 2017 Adams-Oliver Syndrome Type 2 in Association with Compound Heterozygous DOCK6 Mutations.

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

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

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

PMID 23522784 2013 Mutations in EOGT confirm the genetic heterogeneity of autosomal-recessive Adams-Oliver syndrome.