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...
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| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Wiley
2020-01-01
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| Series: | Case Reports in Pediatrics |
| Online Access: | http://dx.doi.org/10.1155/2020/8820966 |
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