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Article

The genetic variability and commonality of neurodevelopmental disease.

American journal of medical genetics. Part C, Seminars in medical genetics - 15 May 2012

Coe Bradley P, Girirajan Santhosh, Eichler Evan E

Abstract excerpt

Despite detailed clinical definition and refinement of neurodevelopmental disorders and neuropsychiatric conditions, the underlying genetic etiology has proved elusive. Recent genetic studies have revealed some common themes: considerable locus heterogeneity, variable expressivity for the same mutation, and a role for multiple disruptive events in the same individual affecting genes in common pathways. Recurrent...

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Identifiers

PMID: 22499536
DOI: 10.1002/ajmg.c.31327
PMCID: PMC4114147

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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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