Characteristic brain magnetic resonance imaging pattern in patients with macrocephaly and PTEN mutations.

doi:10.1002/ajmg.a.36309

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Article

Characteristic brain magnetic resonance imaging pattern in patients with macrocephaly and PTEN mutations.

American journal of medical genetics. Part A - 1 Mar 2014

Vanderver Adeline, Tonduti Davide, Kahn Ilana, Schmidt Johanna, Medne Livija, Vento Jodie, Chapman Kimberly A, Lanpher Brendan, Pearl Phillip, Gropman Andrea, Lourenco Charles, Bamforth John-Steven, Sharpe Cynthia, Pineda Mercédes, Schallner Jens, Bodamer Olaf, Orcesi Simona, Oberstein Saskia A J Lesnik, Sistermans Erik A, Yntema Helger G, Bonnemann Carsten, Waldman Amy T, van der Knaap Marjo S

Abstract excerpt

We describe an MRI phenotype seen in a series of patients with mutations in PTEN who have clinical features consistent with PTEN hamartoma tumor syndrome (PHTS). Retrospective review of clinical data and MRI was performed in 23 subjects evaluated in four different tertiary care centers with clinical programs in inherited disorders of the white matter. Patients were referred due to abnormal MRI features and...

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Identifiers

PMID: 24375884
DOI: 10.1002/ajmg.a.36309
PMCID: PMC5234041

Genes

PTEN

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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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