Associated Papers
Pathogenic variants in the paired-related homeobox 1 gene (PRRX1) cause craniosynostosis with incomplete penetrance.
Tooze RS et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2023
37154149 (PubMed )
Supplement: mmc2.pdf
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
Pituitary Hypoplasia.
Gangat M et al.
Endocrinology and Metabolism Clinics of North America, 2017
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
A recessive mutation resulting in a disabling amino acid substitution (T194R) in the LHX3 homeodomain causes combined pituitary hormone deficiency.
Bechtold-Dalla Pozza S et al.
Hormone Research in Paediatrics, 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
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
Mutations in the LHX3 gene cause dysregulation of pituitary and neural target genes that reflect patient phenotypes.
Savage JJ et al.
Gene, 2007
Four novel mutations of the LHX3 gene cause combined pituitary hormone deficiencies with or without limited neck rotation.
Pfaeffle RW et al.
The Journal of Clinical Endocrinology and Metabolism, 2007
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