Associated Papers
Association of Homozygous PROP1 Mutation in a Saudi Family with Combined Pituitary Hormone Deficiency.
Almatrafi AM et al.
Medicina (kaunas, Lithuania), 2023
Diagnostic utility of next-generation sequencing-based panel testing in 543 patients with suspected skeletal dysplasia.
Scocchia A et al.
Orphanet Journal of Rare Diseases, 2021
34627339 (PubMed )
Supplement: 13023_2021_2025_MOESM3_ESM.xlsx › Targeted_non-coding_variants
Combined pituitary hormone deficiency caused by PROP1 mutations: update 20 years post-discovery.
Correa FA et al.
Archives of Endocrinology and Metabolism, 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
Genetics of Combined Pituitary Hormone Deficiency: Roadmap into the Genome Era.
Fang Q et al.
Endocrine Reviews, 2016
Genetic regulation of pituitary gland development in human and mouse.
Kelberman D et al.
Endocrine Reviews, 2009
Molecular analysis of novel PROP1 mutations associated with combined pituitary hormone deficiency (CPHD).
Kelberman D et al.
Clinical Endocrinology, 2009
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