Condition: Adams-Oliver syndrome 1


rs1553768038 in ARHGAP31 gene and Adams-Oliver syndrome 1 PMID 29924900 2018 Elucidating the genetic architecture of Adams-Oliver syndrome in a large European cohort.

rs372751467 in DOCK6 gene and Adams-Oliver syndrome 1 PMID 29924900 2018 Elucidating the genetic architecture of Adams-Oliver syndrome in a large European cohort.

PMID 26457590 2015 DOCK6 Mutations Are Responsible for a Distinct Autosomal-Recessive Variant of Adams-Oliver Syndrome Associated with Brain and Eye Anomalies.