Associated Papers
Phenotyping and genotyping FEVR: Molecular genetics, clinical and imaging features, and therapeutics.
Wang Y et al.
Progress in Retinal and Eye Research, 2025
Frequency enrichment of coding variants in a French-Canadian founder population and its implication for inflammatory bowel diseases.
Bhérer C et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
40791678 (PubMed )
Supplement: media-2.xlsx › Table_S12_ClinVar_PLP_variants
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
Two AOS genes attributed to familial exudative vitreoretinopathy with microcephaly: Two case reports.
Tao Z et al.
Medicine, 2021
Diffuse angiopathy in Adams-Oliver syndrome associated with truncating DOCK6 mutations.
Lehman A et al.
American Journal of Medical Genetics. Part A, 2014
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