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Article

Functional null mutations in the gonosomal homologue gene TBL1Y are associated with non-syndromic coarctation of the aorta.

Current molecular medicine - 1 Feb 2012

Tagariello A, Breuer C, Birkner Y, Schmidt S, Koch A M, Cesnjevar R, Ruffer A, Dittrich S, Schneider H, Winterpacht A, Sticht H, Dotsch J, Toka O

Abstract excerpt

In patients with congenital heart defects, chromosomal anomalies are 100 times more frequent than in control subjects. Coarctation of the aorta can be detected in 15-20% of patients with Ullrich-Turner syndrome. By extensively reviewing literature involving breakpoint analysis of gonosomal deleti...

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PMID: 22280357
DOI: 10.2174/156652412798889027

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-22280357-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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