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Article

Severe, rapidly progressive, atypical scoliosis with macrocephaly and a de novo phosphatase and tensin homolog missense variant: A case report.

Medicine - 7 Aug 2026

Liu Chen, Du Honggen, Sun Yinling, Chen Xiaomin, Wang Kaiqi, Dong Junxiang, Chen Shao

Abstract excerpt

RATIONALE: Early-onset, rapidly progressive, markedly asymmetric, or otherwise atypical scoliosis should prompt evaluation for an underlying genetic etiology. Variants in phosphatase and tensin homolog (PTEN) are associated with macrocephaly and a broad spectrum of developmental phenotypes; however, their clinical relevance to severe atypical scoliosis remains infrequently described. This case highlights the...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 42566581
DOI: 10.1097/MD.0000000000050052
PMCID: PMC13456832

Genes

PTEN

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

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