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Article

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

Genetic testing - 1 Jan 2003

Prager Sebastian, Wollmann Hartmut A, Mergenthaler Susanne, Mavany Miriam, Eggermann Katja, Ranke Michael B, Eggermann Thomas

Abstract excerpt

Silver-Russell syndrome (SRS) is a syndrome of severe pre- and postnatal growth retardation and typical dysmorphic features. Rare chromosomal aberrations have been reported in SRS; among these are two balanced translocations involving 17q24-q25. Recently, we described a patient with a paternally inherited heterozygous deletion of the chorionic somatomammotropin hormone 1 (CSH1) gene. The CSH1 gene is member of...

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Source

Identifiers

PMID: 14642004
DOI: 10.1089/109065703322537304

Genes

CSH1

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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.

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