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Article

An atypical autistic phenotype associated with a 2q13 microdeletion: a case report.

Journal of medical case reports - 18 Mar 2018

Guivarch Jokthan, Chatel Clarisse, Mortreux Jeremie, Missirian Chantal, Philip Nicole, Poinso François

Abstract excerpt

BACKGROUND: Autism spectrum disorders are serious neurodevelopmental disorders that affect approximately 1% of the population. These disorders are substantially influenced by genetics. Several recent linkage analyses have examined copy number variations associated with autism risk. Microdeletion of the 2q13 region is considered a pathogenic copy number variation. This microdeletion is involved in developmental...

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Identifiers

PMID: 29549886
DOI: 10.1186/s13256-018-1620-4
PMCID: PMC5857311

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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