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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...
Gorde:
| Argitaratua izan da: | Case Rep Pediatr |
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| Egile Nagusiak: | , , , |
| Formatua: | Artigo |
| Hizkuntza: | Inglês |
| Argitaratua: |
Hindawi
2020
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| Gaiak: | |
| Sarrera elektronikoa: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7585648/ https://ncbi.nlm.nih.gov/pubmed/33123400 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1155/2020/8820966 |
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