DOCK6

Publications

Shaheen R et al. Recessive mutations in DOCK6, encoding the guanidine nucleotide exchange factor DOCK6, lead to abnormal actin cytoskeleton organization and Adams-Oliver syndrome. Am J Hum Genet. 2011;89(2):328-33.  PMID: 21820096.

Shaheen R et al. Mutations in EOGT confirm the genetic heterogeneity of autosomal-recessive Adams-Oliver syndrome. Am J Hum Genet. 2013;92(4):598-604.  PMID: 23522784.

Hassed S et al. Adams–Oliver syndrome review of the literature: Refining the diagnostic phenotype. Am J Med Genet A. 2017;173(3):790-800.  PMID: 28160419.

Meester J A et al. Elucidating the genetic architecture of Adams‐Oliver syndrome in a large European cohort. Hum Mutat. 2018;39(9):1246-1261.  PMID: 29924900.

Amor D J et al. Polymicrogyria associated with scalp and limb defects: Variant of Adams‐Oliver syndrome. Am J Med Genet. 2000 Aug 14;93(4):328-34.  PMID: 10946361.