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Article

Coarctation of the aorta in Noonan-like syndrome with loose anagen hair.

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

Zmolikova Michaela, Puchmajerova Alena, Hecht Petr, Lebl Jan, Trkova Marie, Krepelova Anna

Abstract excerpt

Noonan-like syndrome with loose anagen hair (NS/LAH; OMIM 607721) due to a missense mutation c.4A>G in SHOC2 predicting p.Ser2Gly has been described recently. This condition is characterized by facial features similar to Noonan syndrome, reduced growth, cardiac defects, and typical abnormal hair. We report on a patient with molecularly confirmed NS/LAH with coarctation of the aorta. The girl was precipitously...

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PMID: 24458596
DOI: 10.1002/ajmg.a.36404

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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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