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Article

Noonan syndrome-like phenotype associated with an ERF frameshift variant.

American journal of medical genetics. Part A - 1 Sept 2024

Hirano Yasuhiro, Kuroda Yukiko, Enomoto Yumi, Naruto Takuya, Muroya Koji, Kurosawa Kenji

Abstract excerpt

Noonan syndrome is a so-called "RASopathy," that is characterized by short stature, distinctive facial features, congenital heart defects, and developmental delay. Of individuals with a clinical diagnosis of Noonan syndrome, 80%-90% have pathogenic variants in the known genes implicated in the disorder, but the molecular mechanism is unknown in the remaining cases. Heterozygous pathogenic variants of ETS2...

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PMID: 38741564
DOI: 10.1002/ajmg.a.63652

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