Associated Papers
The diagnostic yield of CGH and WES in neurodevelopmental disorders.
Alotibi RS et al.
Frontiers in Pediatrics, 2023
Novel biallelic variants affecting the OTU domain of the gene OTUD6B associate with severe intellectual disability syndrome and molecular dynamics simulations.
Cingöz S et al.
European Journal of Medical Genetics, 2022
A New Family with a Novel OTUD6B Mutation: Practicing Whole Exome Sequencing for Antenatal Diagnosis of Tetralogy of Fallot.
Börklü E et al.
Molecular Syndromology, 2022
Phenotypic expansion of OTUD6B-related syndrome.
Alkuraya FS
American Journal of Medical Genetics. Part A, 2020
Comparison of Genetic Variants and Manifestations of OTUD6B-Related Disorder: The First Mexican Case.
Romero-Ibarguengoitia ME et al.
Journal of Investigative Medicine High Impact Case Reports, 0
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