Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

HMGA2 Variants in Silver-Russell Syndrome: Homozygous and Heterozygous Occurrence.

The Journal of clinical endocrinology and metabolism - 1 Jul 2020

Hübner Christian Thomas, Meyer Robert, Kenawy Asmaa, Ambrozaityte Laima, Matuleviciene Ausra, Kraft Florian, Begemann Matthias, Elbracht Miriam, Eggermann Thomas

Abstract excerpt

CONTEXT: Silver-Russell syndrome (SRS) is a clinical and molecular heterogeneous disorder associated with short stature, typical facial gestalt, and body asymmetry. Though molecular causes of SRS can be identified in a significant number of patients, about one-half of patients currently remain without a molecular diagnosis. However, determination of the molecular cause is required for a targeted treatment and...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Child, Preschool
Share to Exome Sequencing

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genetic Variation

Share to Heterozygote

Share to HMGA2 Protein

Share to Homozygote

Share to Pedigree

Share to Silver-Russell Syndrome

Source

Identifiers

PMID: 32421827
DOI: 10.1210/clinem/dgaa273

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

HMGA2 Variants in Silver-Russell Syndrome: Homozygous and Heterozygous Occurrence.PMID 32421827Read ↗

A case report and review of the literature indicate that HMGA2 should be added as a disease gene for Silver-Russell syndrome.Semantic proximity Read ↗

Characterization of HMGA2 variants expands the spectrum of Silver-Russell syndrome.Semantic proximity Read ↗

A variant of uncertain significance of the HMGA2 gene in a child with Silver-Russell syndrome-like phenotype: a case report.Semantic proximity Read ↗

12q14.3 microdeletion involving HMGA2 gene cause a Silver-Russell syndrome-like phenotype: a case report and review of the literature.Semantic proximity Read ↗

A splicing mutation of the HMGA2 gene is associated with Silver-Russell syndrome phenotype.Semantic proximity Read ↗

Approach to the Patient With Suspected Silver-Russell SyndromeSemantic proximity Read ↗

Case report: Long term response to growth hormone in a child with Silver-Russell syndrome-like phenotype due to a novel paternally inherited IGF2 variant.Semantic proximity Read ↗

Heterozygous HMGB1 variants and neurodevelopmental disorder: phenotypic and allelic spectrumSemantic proximity Read ↗

One test for all: whole exome sequencing significantly improves the diagnostic yield in growth retarded patients referred for molecular testing for Silver-Russell syndrome.Semantic proximity Read ↗

Clinical characterization of PLAG1- related Silver-Russell syndrome：A clinical report.Semantic proximity Read ↗

12q14 microdeletion syndrome: A family with short stature and Silver-Russell syndrome (SRS)-like phenotype and review of the literature.Semantic proximity Read ↗

Genetic disruption of the oncogenic HMGA2-PLAG1-IGF2 pathway causes fetal growth restriction.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.