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Article

Three Novel Missense Mutations within the LHX4 Gene Are Associated with Variable Pituitary Hormone Deficiencies

12 Dec 2007

Abstract excerpt

CONTEXT: The LHX4 LIM-homeodomain transcription factor has essential roles in pituitary gland and nervous system development. Heterozygous mutations in LHX4 are associated with combined pituitary hormone deficiency. OBJECTIVES: Our objectives were to determine the nature and frequency of LHX4 mutations in patients with pituitary hormone deficiency and to examine the functional outcomes of observed mutations....

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PMID: 18073311
DOI: 10.1210/jc.2007-1525

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Three Novel Missense Mutations within the LHX4 Gene Are Associated with Variable Pituitary Hormone DeficienciesPMID 18073311Read ↗

Contribution of LHX4 Mutations to Pituitary Deficits in a Cohort of 417 Unrelated Patients.Semantic proximity Read ↗

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Identifying the Deleterious Effect of Rare LHX4 Allelic Variants, a Challenging Issue.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 ↗

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Novel Lethal Form of Congenital Hypopituitarism Associated With the First Recessive<i>LHX4</i>MutationSemantic proximity Read ↗

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Mutation and Gene Copy Number Analyses of Six Pituitary Transcription Factor Genes in 71 Patients with Combined Pituitary Hormone Deficiency: Identification of a Single Patient with<i>LHX4</i>DeletionSemantic 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 ↗

Roles of the LHX3 and LHX4 LIM-homeodomain factors in pituitary development.Semantic proximity Read ↗

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