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
Characterization of HMGA2 variants expands the spectrum of Silver-Russell syndrome.
Maharaj AV et al.
Jci Insight, 2024
Analysis of children with familial short stature: who should be indicated for genetic testing?
Plachy L et al.
Endocrine Connections, 2023
37561071 (PubMed )
Supplement: supplementary_table_2.pdf
Comprehensive Identification of Pathogenic Gene Variants in Patients With Neuroendocrine Disorders.
Vishnopolska SA et al.
The Journal of Clinical Endocrinology and Metabolism, 2021
Molecular Basis of Mismatch Repair Protein Deficiency in Tumors from Lynch Suspected Cases with Negative Germline Test Results.
Olkinuora A et al.
Cancers, 2020
32660107 (PubMed )
Supplement: cancers-12-01853-s001.zip › Supplementary_Files_olkinuora › Table_S2_olkinuora.xlsx › Table_S2
HMGA2 Variants in Silver-Russell Syndrome: Homozygous and Heterozygous Occurrence.
Hübner CT et al.
The Journal of Clinical Endocrinology and Metabolism, 2020
High Prevalence of Growth Plate Gene Variants in Children With Familial Short Stature Treated With GH.
Plachy L et al.
The Journal of Clinical Endocrinology and Metabolism, 2019
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