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Nabais Sa‐de Vries syndrome in a Chinese infant associated with a novel SPOP mutation: A clinical study and genetic report
BACKGROUND: Nabais Sa‐de Vries syndrome (NSDVS) is a newly identified neurodevelopmental disorder (NDD), characterized by mutations in the SPOP gene, which encodes the speckle‐type BTB/POZ protein. It is divided into two disease subtypes, according to patient facial features, which could be related...
| Autores principales: | , , , , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
John Wiley and Sons Inc.
2022
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9747555/ https://www.ncbi.nlm.nih.gov/pubmed/36259278 http://dx.doi.org/10.1002/mgg3.2075 |