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
A Rare Case of Neonatal Cholestasis Linked to FOCAD Gene Variants: Exploring the Variable Phenotypic Presentation and Its Implications.
Tarrell A et al.
Case Reports in Genetics, 2025
Intrafamilial phenotypic variability in autosomal recessive DOCK6-related Adams-Oliver syndrome.
Zepeda-Romero LC et al.
European Journal of Medical Genetics, 2022
Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.
Akhavanfard S et al.
Nature Communications, 2020
32371905 (PubMed )
Supplement: 41467_2020_16067_MOESM12_ESM.xlsx › Supplementary_Data_9
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
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