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Article

Developmental and behavioral phenotypes of pediatric patients with PTEN hamartoma tumor syndrome.

American journal of medical genetics. Part A - 1 Aug 2024

MacFarland Suzanne P, Duvall Melani, Kemajou Raissa Tchetcho, Baldino Sarah E, Zelley Kristin, Black Chelsea, Thomas Allison, Thomas Nina H, Ruffner Melanie, Li Yimei, Miller Judith S, Brodeur Garrett M, Shabason Emily

Abstract excerpt

Our study characterized the neurodevelopmental spectrum of individuals with PTEN Hamartoma Tumor Syndrome (PHTS), a syndrome that predisposes to both neurodevelopmental phenotypes and cancer risk. We aim to better understand life-impacting neurodevelopmental features of PHTS. Our study recruited 20 children/adolescents with PHTS, who were then administered assessments for autism spectrum disorder (ASD) and other...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 38546160
DOI: 10.1002/ajmg.a.63608

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

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