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Article

Noonan syndrome due to a SHOC2 mutation presenting with fetal distress and fatal hypertrophic cardiomyopathy in a premature infant.

American journal of medical genetics. Part A - 1 Jun 2012

Hoban Rebecca, Roberts Amy E, Demmer Laurie, Jethva Reena, Shephard Barbara

Abstract excerpt

We report on a patient with Noonan syndrome due to SHOC2 missense mutation predicting p.Ser2Gly, recently described in association with Noonan syndrome. The male infant presented with fetal distress requiring premature delivery at 32 weeks and was noted to have dysmorphic features, edema, hepatos...

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Source

Identifiers

PMID: 22528146
DOI: 10.1002/ajmg.a.35318

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-22528146-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

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

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