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A Novel POGZ Variant in a Patient with Intellectual Disability and Obesity
White–Sutton syndrome is a rare type of autosomal dominant neurodevelopmental disorder caused by mutations, mostly de novo, in the POGZ gene. No more than 120 patients have been described so far in the literature. Common clinical manifestations include intellectual disability, developmental delay, a...
| Autores principales: | , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Dove
2022
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9271277/ https://www.ncbi.nlm.nih.gov/pubmed/35821784 http://dx.doi.org/10.2147/TACG.S369483 |