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A Rare Case of Hao-Fountain Syndrome Mimicking Fragile X Syndrome
Hao-Fountain syndrome (HAFOUS) is a rare neurodevelopmental disorder caused by mutations in the ubiquitin-specific protease 7 (USP7) gene for endosomal recycling. The diagnosis is often challenging due to the nonspecific presentation of intellectual disability and developmental delay, often accompan...
| Autores principales: | , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Cureus
2023
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10577392/ https://www.ncbi.nlm.nih.gov/pubmed/37849578 http://dx.doi.org/10.7759/cureus.45332 |