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...

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Detalles Bibliográficos
Autores principales: Itani, Khaled N, Elfaki, Salma
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2023
Materias:
Pediatrics
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

Internet

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

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