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Article

A patient with Silver-Russell syndrome with multilocus imprinting disturbance, and Schimke immuno-osseous dysplasia unmasked by uniparental isodisomy of chromosome 2.

Journal of human genetics - 1 Nov 2021

Hara-Isono Kaori, Matsubara Keiko, Hamada Riku, Shimada Shun, Yamaguchi Tomomi, Wakui Keiko, Miyazaki Osamu, Muroya Koji, Kurosawa Kenji, Fukami Maki, Ogata Tsutomu, Kosho Tomoki, Kagami Masayo

Abstract excerpt

Silver-Russell syndrome (SRS) is a congenital disorder characterized by prenatal and postnatal growth failure and craniofacial features. Hypomethylation of the H19/IGF2:IG-differential methylated region (H19LOM) is observed in 50% of SRS patients, and 15% of SRS patients with H19LOM had multilocus imprinting disturbance (MLID). Schimke immuno-osseous dysplasia (SIOD), characterized by spondyloepiphyseal dysplasia...

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PMID: 34031513
DOI: 10.1038/s10038-021-00937-7

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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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