The Phenotypic Spectrum of Desanto-Shinawi Syndrome: A Comparative Report of the First Reported Case in Turkey.
DeSanto–Shinawi Syndrome
WAC gene
clinical exome sequencing
intellectual disability
Journal
Genetic testing and molecular biomarkers
ISSN: 1945-0257
Titre abrégé: Genet Test Mol Biomarkers
Pays: United States
ID NLM: 101494210
Informations de publication
Date de publication:
13 Apr 2024
13 Apr 2024
Historique:
medline:
13
4
2024
pubmed:
13
4
2024
entrez:
13
4
2024
Statut:
aheadofprint
Résumé
DeSanto-Shinawi syndrome (DESSH, OMIM #616708) is a rare genetic disorder caused by pathogenic variants in the
Identifiants
pubmed: 38613467
doi: 10.1089/gtmb.2023.0285
doi:
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM