Abstract

Noonan syndrome (NS) is an autosomal dominant multisystem disorder. The son of sevenless homolog 1 (symbolized SOS1) gene encodes a guanine nucleotide exchange factor (GEF) for Ras proteins.[1] Genetic disorders in which the SOS1 mutation has been confirmed include NS. Missense mutations in SOS1 account for roughly 10% of NS.[2]

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