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Article

Phenotypic variability associated with the invariant SHOC2 c.4A>G (p.Ser2Gly) missense mutation.

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

Baldassarre Giuseppina, Mussa Alessandro, Banaudi Elena, Rossi Cesare, Tartaglia Marco, Silengo Margherita, Ferrero Giovanni Battista

Abstract excerpt

Noonan-like syndrome with loose anagen hair (NS/LAH; OMIM 607721) is a developmental disorder clinically related to Noonan syndrome (NS) and characterized by facial dysmorphisms, postnatal growth retardation, cardiac anomalies (in particular dysplasia of the mitral valve and septal defects), variable neurocognitive impairment, and florid ectodermal features. A distinctive trait of NS/LAH is its association with...

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PMID: 25331583
DOI: 10.1002/ajmg.a.36697

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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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