Associated Papers
Pathogenic sequence variant and microdeletion affecting HMGA2 in Silver-Russell syndrome: case reports and literature review.
Yamoto K et al.
Clinical Epigenetics, 2024
38840187 (PubMed )
Supplement: 13148_2024_1688_MOESM1_ESM.pdf
HMGA2 Variants in Silver-Russell Syndrome: Homozygous and Heterozygous Occurrence.
Hübner CT et al.
The Journal of Clinical Endocrinology and Metabolism, 2020
A case report and review of the literature indicate that HMGA2 should be added as a disease gene for Silver-Russell syndrome.
Leszinski GS et al.
Gene, 2018
Structural and sequence variants in patients with Silver-Russell syndrome or similar features-Curation of a disease database.
Tümer Z et al.
Human Mutation, 2018
Genetic disruption of the oncogenic HMGA2-PLAG1-IGF2 pathway causes fetal growth restriction.
Abi Habib W et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018
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