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Article

Phenotype-genotype correlations in congenital isolated growth hormone deficiency (IGHD).

Indian journal of pediatrics - 1 Jan 2012

Alatzoglou Kyriaki S, Dattani Mehul T

Abstract excerpt

Isolated growth hormone deficiency (IGHD) may be congenital, often due to genetic mutations, or acquired as a result of other factors such as cranial irradiation. The commonest genes implicated in its genetic etiology are those encoding growth hormone (GH1) and the receptor for GH-releasing hormone (GHRHR). Rarely, IGHD may be caused by mutations in transcription factors (HESX1, SOX3, OTX2) or be the first...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Receptors, Pituitary Hormone-Regulating Hormone

Source

Identifiers

PMID: 22139958
DOI: 10.1007/s12098-011-0614-7

Genes

GHRHR
HESX1
OTX2
SOX3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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