Identification of Novel NSD1 variations in four Pediatric cases with sotos Syndrome
Abstract Objective Sotos syndrome (SOTOS) is an uncommon genetic condition that manifests itself with the following distinctive features: prenatal overgrowth, facial abnormalities, and intellectual disability. This disorder is often associated with haploinsufficiency of the nuclear receptor-binding...
Gorde:
| Egile Nagusiak: | , , , , , , , |
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| Formatua: | Artigo |
| Hizkuntza: | Inglês |
| Argitaratua: |
BMC
2024-04-01
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| Saila: | BMC Medical Genomics |
| Gaiak: | |
| Sarrera elektronikoa: | https://doi.org/10.1186/s12920-024-01889-5 |
| Etiketak: |
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