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Article

A balanced translocation truncates Neurotrimin in a family with intracranial and thoracic aortic aneurysm.

Journal of medical genetics - 1 Oct 2012

Luukkonen Tiia M, Pöyhönen Minna, Palotie Aarno, Ellonen Pekka, Lagström Sonja, Lee Joseph H, Terwilliger Joseph D, Salonen Riitta, Varilo Teppo

Abstract excerpt

BACKGROUND: Balanced chromosomal rearrangements occasionally have strong phenotypic effects, which may be useful in understanding pathobiology. However, conventional strategies for characterising breakpoints are laborious and inaccurate. We present here a proband with a thoracic aortic aneurysm (TAA) and a balanced translocation t(10;11) (q23.2;q24.2). Our purpose was to sequence the chromosomal breaks in this...

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Identifiers

PMID: 23054244
DOI: 10.1136/jmedgenet-2012-100977
PMCID: PMC4039200

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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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