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
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
GATA2 deficiency syndrome: A decade of discovery.
Homan CC et al.
Human Mutation, 2021
34387894 (PubMed )
Supplement: HUMU-42-1399-s001.xlsx › Supp._Table_S1
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
Three patients with DeSanto-Shinawi syndrome: Further phenotypic delineation.
Uehara T et al.
American Journal of Medical Genetics. Part A, 2018
De novo loss-of-function mutations in WAC cause a recognizable intellectual disability syndrome and learning deficits in Drosophila.
Lugtenberg D et al.
European Journal of Human Genetics : Ejhg, 2016
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