A novel pathogenic variation of DOCK6 gene: the genotype-phenotype correlation in Adams-Oliver syndrome.
Lula María Nieto-BenitoRicardo Suárez-FernándezMinia Campos-DomínguezPublished in: Molecular biology reports (2023)
In AOS, genotype-phenotype correlations have been described. DOCK6 mutations appear to be related with congenital cardiac and central nervous system malformations associated with intellectual disability, as illustrated in the present case.