Associated Papers
Novel compound heterozygous DOCK6 variants expand the mutational spectrum in prenatal diagnosis of Adams-Oliver syndrome 2.
Zhong X et al.
Bmc Medical Genomics, 2025
Analysis of transcript-deleterious variants in Mendelian disorders: implications for RNA-based diagnostics.
Maddirevula S et al.
Genome Biology, 2020
32552793 (PubMed )
Supplement: 13059_2020_2053_MOESM3_ESM.xlsx › Table_S2
DOCK6 mutations are responsible for a distinct autosomal-recessive variant of Adams-Oliver syndrome associated with brain and eye anomalies.
Sukalo M et al.
Human Mutation, 2015
Mutations in EOGT confirm the genetic heterogeneity of autosomal-recessive Adams-Oliver syndrome.
Shaheen R et al.
American Journal of Human Genetics, 2013
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