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A Case of DeSanto-Shinawi Syndrome in Bahrain with a Novel Mutation
DeSanto-Shinawi syndrome is a rare genetic condition caused by loss-of-function mutation in WAC. It is characterized by dysmorphic features, intellectual disability, and behavioral abnormalities. In this case report, we describe the clinical features and genotype of a patient with a novel mutation 1...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Hindawi
2020
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7585648/ https://www.ncbi.nlm.nih.gov/pubmed/33123400 http://dx.doi.org/10.1155/2020/8820966 |