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Article

A novel mutation in the LIM homeobox 3 gene is responsible for combined pituitary hormone deficiency, hearing impairment, and vertebral malformations.

The Journal of clinical endocrinology and metabolism - 1 Apr 2009

Kriström Berit, Zdunek Anna-Maija, Rydh Anders, Jonsson Håkan, Sehlin Petra, Escher Stefan A

Abstract excerpt

CONTEXT: The LIM homeobox 3 (LHX3) LIM-homeodomain transcription factor gene, found in both man and mouse, is required for development of the pituitary and motor neurons, and is also expressed in the auditory system. OBJECTIVE: The objective of this study was to determine the cause of, and furthe...

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Source

Identifiers

PMID: 19126629
DOI: 10.1210/jc.2008-0325

Genes

LHX3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-19126629-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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A novel mutation in the LIM homeobox 3 gene is responsible for combined pituitary hormone deficiency, hearing impairment, and vertebral malformations.PMID 19126629Read ↗

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Mutations in LHX3 result in a new syndrome revealed by combined pituitary hormone deficiency.Semantic proximity Read ↗

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Mutations in the LHX3 gene cause dysregulation of pituitary and neural target genes that reflect patient phenotypes.Semantic proximity Read ↗

LHX3 transcription factor mutations associated with combined pituitary hormone deficiency impair the activation of pituitary target genes.Semantic proximity Read ↗

Molecular analysis of LHX3 and PROP-1 in pituitary hormone deficiency patients with posterior pituitary ectopia.Semantic proximity Read ↗

Novel mutations in LHX3 are associated with hypopituitarism and sensorineural hearing loss.Semantic proximity Read ↗

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Genomic structure, chromosomal localization, and expression pattern of the human LIM-homeobox3 (LHX 3) gene.Semantic proximity Read ↗

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Pathophysiology of syndromic combined pituitary hormone deficiency due to a LHX3 defect in light of LHX3 and LHX4 expression during early human development.Semantic proximity Read ↗

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