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Article

Isolated GH deficiency: mutation screening and copy number analysis of HMGA2 and CDK6 genes.

European journal of endocrinology - 1 Oct 2011

Gorbenko del Blanco Darya, de Graaff Laura C G, Posthouwer Dirk, Visser Theo J, Hokken-Koelega Anita C S

Abstract excerpt

OBJECTIVE: In most patients, the genetic cause of isolated GH deficiency (IGHD) is unknown. By identifying several genes associated with height variability within the normal population, three separate genome-wide association studies provided new candidate genes for human growth disorders. We selected two of them for genetic screening of our IGHD population. AIM: We aimed to determine whether high-mobility group...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 21803798
DOI: 10.1530/EJE-11-0478

Genes

HMGA2
CDK6

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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