Contribution of gene mutations to Silver-Russell syndrome phenotype: multigene sequencing analysis in 92 etiology-unknown patients.
Takanobu InoueAkie NakamuraMegumi Iwahashi-OdanoKanako Tanase-NakaoKeiko MatsubaraJunko NishiokaYoshihiro MaruoYukihiro HasegawaHiroshi SuzumuraSeiji SatoYoshiyuki KobayashiNobuyuki MurakamiKazuhiko NakabayashiKazuki YamazawaTomoko FukeSatoshi NarumiAkira OkaTsutomu OgataMaki FukamiMasayo KagamiPublished in: Clinical epigenetics (2020)
We identified nine patients (9.8%) with pathogenic or likely pathogenic variants out of 92 etiology-unknown patients with SRS phenotype. This study expands the molecular spectrum of SRS phenotype.