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Article

Four novel mutations of the LHX3 gene cause combined pituitary hormone deficiencies with or without limited neck rotation.

The Journal of clinical endocrinology and metabolism - 1 May 2007

Pfaeffle Roland W, Savage Jesse J, Hunter Chad S, Palme Christina, Ahlmann Martina, Kumar Prasanna, Bellone Jaele, Schoenau Eckhard, Korsch Eckhard, Brämswig Jürgen H, Stobbe Heike M, Blum Werner F, Rhodes Simon J

Abstract excerpt

CONTEXT: The Lhx3 LIM-homeodomain transcription factor gene is required for development of the pituitary and motoneurons in mice. Human LHX3 gene mutations have been reported in five subjects with a phenotype consisting of GH, prolactin, TSH, LH, and FSH deficiency; abnormal pituitary morphology; and limited neck rotation. OBJECTIVE: The objective of the study was to determine the frequency and nature of LHX3...

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Source

Identifiers

PMID: 17327381
DOI: 10.1210/jc.2006-2177

Genes

LHX3

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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