Associated Papers
Screening a large pediatric cohort with GH deficiency for mutations in genes regulating pituitary development and GH secretion: Frequencies, phenotypes and growth outcomes.
Blum WF et al.
Ebiomedicine, 2018
Two novel LHX3 mutations in patients with combined pituitary hormone deficiency including cervical rigidity and sensorineural hearing loss.
Ramzan K et al.
Bmc Endocrine Disorders, 2017
Identifying the Deleterious Effect of Rare LHX4 Allelic Variants, a Challenging Issue.
Rochette C et al.
Plos One, 2015
Symptomatic heterozygotes and prenatal diagnoses in a nonconsanguineous family with syndromic combined pituitary hormone deficiency resulting from two novel LHX3 mutations.
Sobrier ML et al.
The Journal of Clinical Endocrinology and Metabolism, 2012
A novel mutation of LHX3 is associated with combined pituitary hormone deficiency including ACTH deficiency, sensorineural hearing loss, and short neck-a case report and review of the literature.
Bonfig W et al.
European Journal of Pediatrics, 2011
Novel mutations associated with combined pituitary hormone deficiency.
Romero CJ et al.
Journal of Molecular Endocrinology, 2011
Pituitary transcription factors in the aetiology of combined pituitary hormone deficiency.
Pfäffle R et al.
Best Practice & Research. Clinical Endocrinology & Metabolism, 2011
Congenital pituitary hormone deficiencies: role of LHX3/LHX4 genes.
Castinetti F et al.
Expert Review of Endocrinology & Metabolism, 2008
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