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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...

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Detalles Bibliográficos
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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
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