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Expansion of the mutation spectrum and phenotype of USP7-related neurodevelopmental disorder
BACKGROUND: Hao-fountain syndrome (HAFOUS) is a neurodevelopmental syndrome characterized by global developmental and severe language delays, behavioral abnormalities (including autism), and mild dysmorphic impairment of intellectual development. It is a dominant genetic disease caused by USP7 gene...
Autores principales: | , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Frontiers Media S.A.
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9708884/ https://www.ncbi.nlm.nih.gov/pubmed/36466803 http://dx.doi.org/10.3389/fnmol.2022.970649 |