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Article

[Nosologic evaluation of Noonan syndrome and description of nine cases].

Minerva pediatrica - 1 Sept 1993

de Toni T, Arioni C, Traverso A, Gastaldi R, Vianello M G

Abstract excerpt

Noonan syndrome was first described over 20 years ago by Noonan and Ehmke. They defined a specific group of nine patients with valvular pulmonary stenosis who, in addition, had short stature, mild mental retardation, hypertelorism and unusual facies. The incidence of Noonan syndrome has been estimated to be between 1 in 1000 and 1 in 2500 live births. The primary biochemical defect in Noonan's syndrome is...

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PMID: 8302230

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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