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Article

Biochemical screening and PTEN mutation analysis in individuals with autism spectrum disorders and macrocephaly.

European journal of human genetics : EJHG - 1 Feb 2014

Hobert Judith A, Embacher Rebecca, Mester Jessica L, Frazier Thomas W, Eng Charis

Abstract excerpt

Unlike some other childhood neurodevelopmental disorders, no diagnostic biochemical marker has been identified in all individuals with an autism spectrum disorder (ASD). This deficit likely results from genetic heterogeneity among the population. Therefore, we evaluated a subset of individuals with ASDs, specifically, individuals with or without macrocephaly in the presence or absence of PTEN mutations. We sought...

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Source

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Identifiers

PMID: 23695273
DOI: 10.1038/ejhg.2013.114
PMCID: PMC3895634

Genes

PTEN

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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