Whole Exome Sequencing Reveals a Novel AUTS2 In-Frame Deletion in a Boy with Global Developmental Delay, Absent Speech, Dysmorphic Features, and Cerebral Anomalies

Neurodevelopmental disorders (NDDs) are a group of highly prevalent, clinically and genetically heterogeneous pediatric disorders comprising, according to the Diagnostic and Statistical Manual of Mental Disorders 5th edition (DSM-V), intellectual disability, developmental delay, autism spectrum diso...

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Detalles Bibliográficos
Autores principales: Palumbo, Pietro, Di Muro, Ester, Accadia, Maria, Benvenuto, Mario, Di Giacomo, Marilena Carmela, Castellana, Stefano, Mazza, Tommaso, Castori, Marco, Palumbo, Orazio, Carella, Massimo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7915150/
https://www.ncbi.nlm.nih.gov/pubmed/33562463
http://dx.doi.org/10.3390/genes12020229

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7915150/
https://www.ncbi.nlm.nih.gov/pubmed/33562463
http://dx.doi.org/10.3390/genes12020229

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