Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Clinical case seminar: a novel LHX3 mutation presenting as combined pituitary hormonal deficiency.

The Journal of clinical endocrinology and metabolism - 1 Mar 2006

Bhangoo Amrit P S, Hunter Chad S, Savage Jesse J, Anhalt Henry, Pavlakis Steven, Walvoord Emily C, Ten Svetlana, Rhodes Simon J

Abstract excerpt

CONTEXT: LHX3 encodes LIM homeodomain class transcription factors with important roles in pituitary and nervous system development. The only previous report of LHX3 mutations described patients with two types of recessive mutations displaying combined pituitary hormone deficiency coupled with neck rigidity. OBJECTIVE: We report a patient presenting a unique phenotype associated with a novel mutation in the LHX3...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Amino Acid Sequence
Share to Consanguinity

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Homeodomain Proteins

Share to LIM-Homeodomain Proteins

Share to Pituitary Gland

Share to Pituitary Hormones

Share to Sequence Deletion

Share to Transcription Factors

Source

Identifiers

PMID: 16394081
DOI: 10.1210/jc.2005-2360

Genes

LHX3

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.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Clinical case seminar: a novel LHX3 mutation presenting as combined pituitary hormonal deficiency.PMID 16394081Read ↗

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

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

Symptomatic heterozygotes and prenatal diagnoses in a nonconsanguineous family with syndromic combined pituitary hormone deficiency resulting from two novel LHX3 mutations.Semantic proximity Read ↗

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

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

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

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

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 ↗

Three Novel Missense Mutations within the LHX4 Gene Are Associated with Variable Pituitary Hormone DeficienciesSemantic proximity Read ↗

LHX3 and LHX4 transcription factors in pituitary development and disease.Semantic proximity Read ↗

A Novel Missense Mutation (P366T) of the LHX4 Gene Causes Severe Combined Pituitary Hormone Deficiency with Pituitary Hypoplasia, Ectopic Posterior Lobe and a Poorly Developed Sella TurcicaSemantic proximity Read ↗

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

⌁Select a neighboring publication to make it the new centre.