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Further Delineation of Duplications of ARX Locus Detected in Male Patients with Varying Degrees of Intellectual Disability
The X-linked gene encoding aristaless-related homeobox (ARX) is a bi-functional transcription factor capable of activating or repressing gene transcription, whose mutations have been found in a wide spectrum of neurodevelopmental disorders (NDDs); these include cortical malformations, paediatric epi...
Autores principales: | Poeta, Loredana, Malacarne, Michela, Padula, Agnese, Drongitis, Denise, Verrillo, Lucia, Lioi, Maria Brigida, Chiariello, Andrea M., Bianco, Simona, Nicodemi, Mario, Piccione, Maria, Salzano, Emanuela, Coviello, Domenico, Miano, Maria Giuseppina |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8955779/ https://www.ncbi.nlm.nih.gov/pubmed/35328505 http://dx.doi.org/10.3390/ijms23063084 |
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