Associated Papers
A Pedigree With LHX4 and SOX3 Gene Variants Resulting in Gonadal Dysplasia.
Ji Z et al.
Clinical Case Reports, 2025
Phase separation as a possible mechanism for dosage sensitivity.
Yang L et al.
Genome Biology, 2024
38225666 (PubMed )
Supplement: 13059_2023_3128_MOESM3_ESM.xlsx › NMD_mutations
A patient with combined pituitary hormone deficiency and osteogenesis imperfecta associated with mutations in LHX4 and COL1A2.
Hemwong N et al.
Journal of Advanced Research, 2020
Genetic causes of hypopituitarism.
Parkin K et al.
Archives of Medical Science : Ams, 2020
Genetics of Combined Pituitary Hormone Deficiency: Roadmap into the Genome Era.
Fang Q et al.
Endocrine Reviews, 2016
Identifying the Deleterious Effect of Rare LHX4 Allelic Variants, a Challenging Issue.
Rochette C et al.
Plos One, 2015
Novel mutations associated with combined pituitary hormone deficiency.
Romero CJ et al.
Journal of Molecular Endocrinology, 2011
Congenital pituitary hormone deficiencies: role of LHX3/LHX4 genes.
Castinetti F et al.
Expert Review of Endocrinology & Metabolism, 2008
A novel dysfunctional LHX4 mutation with high phenotypical variability in patients with hypopituitarism.
Castinetti F et al.
The Journal of Clinical Endocrinology and Metabolism, 2008
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