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Article

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

Gene - 1 Oct 2007

Savage Jesse J, Hunter Chad S, Clark-Sturm Surilda L, Jacob Tanya M, Pfaeffle Roland W, Rhodes Simon J

Abstract excerpt

The LHX3 LIM-homeodomain transcription factor is required for correct development of the mammalian pituitary gland and spinal motoneurons. Mutations in the LHX3 gene underlie complex diseases featuring combined anterior pituitary hormone deficiency and, in specific cases, loss of neck rotation considered to result from nervous system abnormalities. The molecular basis for LHX3 protein actions in both normal and...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 17616267
DOI: 10.1016/j.gene.2007.05.017
PMCID: PMC2045125

Genes

LHX3

Variants

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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