2017
DOI: 10.14341/probl201763298-102
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Mutations in the ghrelin receptor gene GHSR in congenital hypopituitarism

Abstract: The results of molecular genetic studies indicate the potential involvement of ghrelin in the pathogenesis of some dwarfism forms. However, in the case of isolated somatotropin insufficiency, mutations in the ghrelin receptor gene are a rare cause of the disease. The article describes a case of identification, based on new generation sequencing (NGS) using the AmpliSeq technology, of a functionally significant marker ― the c.837C>A substitution in the ghrelin receptor gene GHSR (OMIM: 615925) in the heteroz… Show more

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