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
One test for all: whole exome sequencing significantly improves the diagnostic yield in growth retarded patients referred for molecular testing for Silver-Russell syndrome.
Meyer R et al.
Orphanet Journal of Rare Diseases, 2021
HMGA2 Variants in Silver-Russell Syndrome: Homozygous and Heterozygous Occurrence.
Hübner CT et al.
The Journal of Clinical Endocrinology and Metabolism, 2020
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