Associated Papers
A Novel Missense Variant in LHX4 in Three Children with Multiple Pituitary Hormone Deficiency Belonging to Two Unrelated Families and Contribution of Additional GLI2 and IGFR1 Variant.
Santoro C et al.
Children (basel, Switzerland), 2025
40150646 (PubMed )
Supplement: children-12-00364-s001.zip › children-3478755-TABLE_6_-_SUPPLEMENTAL_MATERIAL.xlsx › Foglio1
A Pedigree With LHX4 and SOX3 Gene Variants Resulting in Gonadal Dysplasia.
Ji Z et al.
Clinical Case Reports, 2025
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
Genetics of Combined Pituitary Hormone Deficiency: Roadmap into the Genome Era.
Fang Q et al.
Endocrine Reviews, 2016
Novel Lethal Form of Congenital Hypopituitarism Associated With the First Recessive LHX4 Mutation.
Gregory LC et al.
The Journal of Clinical Endocrinology and Metabolism, 2015
Human gene-centered transcription factor networks for enhancers and disease variants.
Fuxman Bass JI et al.
Cell, 2015
Identifying the Deleterious Effect of Rare LHX4 Allelic Variants, a Challenging Issue.
Rochette C et al.
Plos One, 2015
Molecular and Clinical Findings in Patients with LHX4 and OTX2 Mutations.
Tajima T et al.
Clinical Pediatric Endocrinology : Case Reports and Clinical Investigations : Official Journal of the Japanese Society for Pediatric Endocrinology, 2013
Novel mutations associated with combined pituitary hormone deficiency.
Romero CJ et al.
Journal of Molecular Endocrinology, 2011
Genetic regulation of pituitary gland development in human and mouse.
Kelberman D et al.
Endocrine Reviews, 2009
Congenital pituitary hormone deficiencies: role of LHX3/LHX4 genes.
Castinetti F et al.
Expert Review of Endocrinology & Metabolism, 2008
Three novel missense mutations within the LHX4 gene are associated with variable pituitary hormone deficiencies.
Pfaeffle RW et al.
The Journal of Clinical Endocrinology and Metabolism, 2008
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