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Frequency and clinical characteristics of distinct etiologies in patients with Silver-Russell syndrome diagnosed based on the Netchine-Harbison clinical scoring system.

Journal of human genetics - 1 Oct 2022

Fuke Tomoko, Nakamura Akie, Inoue Takanobu, Kawashima Sayaka, Hara-Isono Kaori, Matsubara Keiko, Sano Shinichiro, Yamazawa Kazuki, Fukami Maki, Ogata Tsutomu, Kagami Masayo

Abstract excerpt

Silver-Russel syndrome (SRS) is a representative imprinting disorder (ID) characterized by growth failure and diagnosed by clinical features. Recently, international consensus has recommended using the Netchine-Harbison clinical scoring system (NH-CSS) as clinical diagnostic criteria. Loss of methylation of H19/IGF2:intergenic differentially methylated region (H19LOM) and maternal uniparental disomy chromosome 7...

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PMID: 35606504
DOI: 10.1038/s10038-022-01048-7

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