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

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

Journal of human genetics - 1 Jun 2015

De Crescenzo Agostina, Citro Valentina, Freschi Andrea, Sparago Angela, Palumbo Orazio, Cubellis Maria Vittoria, Carella Massimo, Castelluccio Pia, Cavaliere Maria Luigia, Cerrato Flavia, Riccio Andrea

Abstract excerpt

Silver-Russell syndrome (SRS) is a heterogeneous disorder characterized by intrauterine and post-natal growth retardation, dysmorphic facial features and body asymmetry. About 50% of the patients carry (epi)genetic alterations involving chromosomes 7 or 11.The high proportion of patients with unidentified molecular etiology suggests the involvement of other genes. Interestingly, SRS patients share clinical...

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 DNA Mutational Analysis

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genetic Association Studies

Share to HMGA2 Protein

Share to Pedigree

Share to RNA Splice Sites

Share to Sequence Deletion

Share to Silver-Russell Syndrome

Source

Identifiers

PMID: 25809938
DOI: 10.1038/jhg.2015.29

Genes

HMGA2

Provenance

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.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A splicing mutation of the HMGA2 gene is associated with Silver-Russell syndrome phenotype.PMID 25809938Read ↗

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 ↗

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

Submicroscopic chromosomal imbalances in idiopathic Silver-Russell syndrome (SRS): the SRS phenotype overlaps with the 12q14 microdeletion syndrome.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 ↗

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

Rare Causes and Differential Diagnosis in Patients With Silver-Russell Syndrome.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 ↗

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 ↗

Molecular characterisation of an Italian cohort of Silver-Russell Syndrome patients by -omics approachesSemantic proximity Read ↗

Epigenetic and genetic diagnosis of Silver-Russell syndrome.Semantic proximity Read ↗

Silver-Russell syndrome.Semantic proximity Read ↗

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