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Article

Toward better characterization of restricted and repetitive behaviors in individuals with germline heterozygous PTEN mutations.

American journal of medical genetics. Part A - 1 Nov 2021

Uljarević Mirko, Frazier Thomas W, Rached Gaëlle, Busch Robyn M, Klaas Patricia, Srivastava Siddharth, Martinez-Agosto Julian A, Sahin Mustafa, Eng Charis, Hardan Antonio Y

Abstract excerpt

This study aimed to further our understanding of restricted and repetitive behaviors (RRB) among individuals with germline pathogenic mutations in PTEN by providing multimethod characterization and comparison of key RRB subdomains across individuals with PTEN mutations with autism spectrum disorder (ASD) (PTEN-ASD), with PTEN mutations without ASD (PTEN-No ASD) and with ASD and macrocephaly but without PTEN...

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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: 34423884
DOI: 10.1002/ajmg.a.62458
PMCID: PMC8530948

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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