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
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
Distinct mutation profiles between primary bladder cancer and circulating tumor cells warrant the use of circulating tumors cells as cellular resource for mutation follow-up.
Kim TM et al.
Bmc Cancer, 2020
33287735 (PubMed )
Supplement: 12885_2020_7684_MOESM2_ESM.xlsx › Sheet1
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
WAC loss-of-function mutations cause a recognisable syndrome characterised by dysmorphic features, developmental delay and hypotonia and recapitulate 10p11.23 microdeletion syndrome.
DeSanto C et al.
Journal of Medical Genetics, 2015
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