Associated Papers
Patients with DeSanto-Shinawi syndrome: Further extension of phenotype from Italy.
Pasquali D et al.
American Journal of Medical Genetics. Part A, 2023
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
32214004 (PubMed )
Supplement: genes-11-00344-s001.7z › Supplementary_Table_S2.xlsx › Spectrum
Three patients with DeSanto-Shinawi syndrome: Further phenotypic delineation.
Uehara T et al.
American Journal of Medical Genetics. Part A, 2018
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