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Article

Pneumothorax from subpleural blebs-a new association of sotos syndrome?

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

Balasubramanian Meena, Shearing Emma, Smith Kath, Chavasse R, Taylor R, Tatton-Brown Katrina, Primhak Robert, Ugonna Kelechi, Parker Michael J

Abstract excerpt

We describe two unrelated patients with molecularly confirmed Sotos syndrome with multiple subpleural blebs and pneumothorax. We propose this as a new association. Patient 1 is a 3-year-old boy with a 1.9 Mb interstitial deletion of the long arm of chromosome 5, with breakpoints at q35.2 and q35.3, encompassing NSD1 and Patient 2 is a 9-year-old girl with a de novo truncating mutation within NSD1. Both patients...

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Share to Chromosome Deletion
Share to Chromosomes, Human, Pair 5

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Comparative Genomic Hybridization

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Share to Histone-Lysine N-Methyltransferase

Share to Histone Methyltransferases

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Share to Tomography, X-Ray Computed

Source

Identifiers

PMID: 24458726
DOI: 10.1002/ajmg.a.36406

Genes

NSD1

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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