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Article

Combined effect of mutations of the GH1 gene and its proximal promoter region in a child with growth hormone neurosecretory dysfunction (GHND).

Journal of molecular medicine (Berlin, Germany) - 1 Sept 2007

Rojas-Gil Andrea Paola, Ziros Panos G, Kanetsis Efthymios, Papathanassopoulou Vassiliki, Nikolakopoulou Nikoleta M, He Kai, Frank Stuart J, Papavassiliou Athanasios G, Spiliotis Bessie E

Abstract excerpt

Mutational analysis of the growth hormone 1 (GH1) gene and its promoter in a patient with GH neurosecretory dysfunction (GHND) revealed a heterozygous new deletion of one base 7-bp downstream from the 3'-splice site of exon 4 (IVS4'del+7) of the GH1 gene and two new heterozygous mutations at sites -135 and -138 of the GH1 promoter. In addition, two polymorphisms at sites -301 and -308 of the GH1 promoter were...

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Identifiers

PMID: 17479231
DOI: 10.1007/s00109-007-0200-7

Genes

HES1

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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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