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

Paternally inherited deletion of CSH1 in a patient with Silver-Russell syndrome.

Journal of medical genetics - 1 Sept 1998

Eggermann T, Eggermann K, Mergenthaler S, Kuner R, Kaiser P, Ranke M B, Wollmann H A

Abstract excerpt

In a continuing study on the aetiology of Silver-Russell syndrome (SRS), we detected a patient with a heterozygous deletion in the growth hormone gene cluster (17q22-q24). The deletion of the chorionic somatomammotrophin hormone 1 (CSH1) gene was inherited from the patient's father. The patient shows typical symptoms of SRS. Though deletions of CSH1 have been reported without any phenotypic consequences, the...

Read the complete abstract on PubMed

Topics

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

Share to Child
Share to Chromosomes, Human, Pair 17
Share to Gene Deletion

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Genetic Heterogeneity

Share to Genetic Variation

Share to Genotype

Share to Multigene Family

Share to Syndrome

Source

Open in PubMed Open full text

Identifiers

PMID: 9733042
DOI: 10.1136/jmg.35.9.784
PMCID: PMC1051436

Genes

CSH1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Paternally inherited deletion of CSH1 in a patient with Silver-Russell syndrome.PMID 9733042Read ↗

Characterization of genomic variants in CSH1 and GH2, two candidate genes for Silver-Russell syndrome in 17q24-q25.Semantic proximity Read ↗

Silver-Russell syndrome: a dissection of the genetic aetiology and candidate chromosomal regions.Semantic proximity Read ↗

The genetic aetiology of Silver-Russell syndrome.Semantic proximity Read ↗

Genetics of Silver-Russell syndrome.Semantic proximity Read ↗

Mosaic maternal uniparental disomy of chromosome 11 in a patient with Silver–Russell syndromeSemantic proximity Read ↗

Searching for genomic variants in IGF2 and CDKN1C in Silver-Russell syndrome patients.Semantic proximity Read ↗

The endocrine phenotype in silver-russell syndrome is defined by the underlying epigenetic alteration.Semantic proximity Read ↗

Silver-Russell syndrome and exclusion of uniparental disomy.Semantic proximity Read ↗

Severe Silver-Russell syndrome and translocation (17;20) (q25;q13)Semantic proximity Read ↗

Maternal uniparental disomy 7 in Silver-Russell syndrome.Semantic proximity Read ↗

The degree of H19 hypomethylation in children with Silver-Russel syndrome (SRS) is not associated with the severity of phenotype and the clinical severity score (CSS).Semantic proximity Read ↗

[Uniparental disomy 7 in the pathogenesis of Silver-Russell syndrome].Semantic proximity Read ↗

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