Associated Papers
Clinical and molecular characterization of five new individuals with WAC-related intellectual disability: Evidence of pathogenicity for a novel splicing variant.
Morales JA et al.
American Journal of Medical Genetics. Part A, 2022
Extending the phenotype of DeSanto-Shinawi syndrome: A case report and literature review.
Ho S et al.
American Journal of Medical Genetics. Part A, 2022
A Novel WAC Loss of Function Mutation in an Individual Presenting with Encephalopathy Related to Status Epilepticus during Sleep (ESES).
Leonardi E et al.
Genes, 2020
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