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Article

Adult neuropsychiatric expression and familial segregation of 2q13 duplications.

American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics - 1 Jun 2014

Costain Gregory, Lionel Anath C, Fu Fiona, Stavropoulos Dimitri J, Gazzellone Matthew J, Marshall Christian R, Scherer Stephen W, Bassett Anne S

Abstract excerpt

New genomic disorders associated with large, rare, recurrent copy number variations (CNVs) are being discovered at a rapid pace. Detailed phenotyping and family studies are rare, however, as are data on adult phenotypic expression. Duplications at 2q13 were recently identified as risk factors for developmental delay/autism and reported in the prenatal setting, yet few individuals (all children) have been...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 24807792
DOI: 10.1002/ajmg.b.32236
PMCID: PMC4464821

Genes

ANAPC1
MERTK

Provenance

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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