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

Genes - 5 Feb 2021

Palumbo Pietro, Di Muro Ester, Accadia Maria, Benvenuto Mario, Di Giacomo Marilena Carmela, Castellana Stefano, Mazza Tommaso, Castori Marco, Palumbo Orazio, Carella Massimo

Abstract excerpt

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 disorders, and other neurological and cognitive disorders manifesting in the developmental age. To date, more than 1000...

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Identifiers

PMID: 33562463
DOI: 10.3390/genes12020229
PMCID: PMC7915150

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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