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Shukla-Vernon Syndrome: A Second Family with a Novel Variant in the BCORL1 Gene
Shukla-Vernon syndrome (SHUVER) is an extremely rare neurodevelopmental disorder characterized by global developmental delay, intellectual disability, behavioral anomalies, and dysmorphic features. Pathogenic variants in the BCORL1 gene have been identified as the molecular cause for this disorder....
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
MDPI
2021
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8005212/ https://www.ncbi.nlm.nih.gov/pubmed/33810051 http://dx.doi.org/10.3390/genes12030452 |