Associated Papers
Familial Exudative Vitreoretinopathy-Like Retinal Findings in Adams-Oliver Syndrome Type 2.
Wang Y et al.
Clinical & Experimental Ophthalmology, 2025
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
Multiplex targeted high-throughput sequencing in a series of 352 patients with congenital limb malformations.
Jourdain AS et al.
Human Mutation, 2020
Elucidating the genetic architecture of Adams-Oliver syndrome in a large European cohort.
Meester JAN et al.
Human Mutation, 2018
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
Diffuse angiopathy in Adams-Oliver syndrome associated with truncating DOCK6 mutations.
Lehman A et al.
American Journal of Medical Genetics. Part A, 2014
Recessive mutations in DOCK6, encoding the guanidine nucleotide exchange factor DOCK6, lead to abnormal actin cytoskeleton organization and Adams-Oliver syndrome.
Shaheen R et al.
American Journal of Human Genetics, 2011
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