Associated Papers
Genetics of GH Deficiency: Insights From a Cohort of 203 Patients.
Ribeiro AC et al.
The Journal of Clinical Endocrinology and Metabolism, 2026
Clinical and genetic landscape of epilepsies with absence seizures and single-gene etiology.
Balestrini S et al.
Epilepsia, 2025
Comparison of clinical characteristics of a pediatric cohort with combined pituitary hormone deficiency caused by mutation of the PROP1 gene or of other origins.
Zygmunt-Górska A et al.
Hormones (athens, Greece), 2024
Congenital Hypopituitarism: Various Genes, Various Phenotypes.
Xatzipsalti M et al.
Hormone and Metabolic Research = Hormon- Und Stoffwechselforschung = Hormones Et Metabolisme, 2019
Molecular analysis of brazilian patients with combined pituitary hormone deficiency and orthotopic posterior pituitary lobe reveals eight different PROP1 alterations with three novel mutations.
Madeira JL et al.
Clinical Endocrinology, 2017
Genesis of two most prevalent PROP1 gene variants causing combined pituitary hormone deficiency in 21 populations.
Dusatkova P et al.
European Journal of Human Genetics : Ejhg, 2016
Genetic regulation of pituitary gland development in human and mouse.
Kelberman D et al.
Endocrine Reviews, 2009
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