Genetic spectrum and predictors of mutations in four known genes in Asian Indian patients with growth hormone deficiency and orthotopic posterior pituitary: an emphasis on regional genetic diversity
Author:
Publisher
Springer Science and Business Media LLC
Subject
Endocrinology,Endocrinology, Diabetes and Metabolism
Link
https://link.springer.com/content/pdf/10.1007/s11102-020-01078-4.pdf
Reference41 articles.
1. Giordano M (2016) Genetic causes of isolated and combined pituitary hormone deficiency. Best Pract Res Clin Endocrinol Metab 30(6):679–691
2. Alatzoglou KS, Dattani MT (2010) Genetic causes and treatment of isolated growth hormone deficiency – an update. Nat Rev Endocrinol 6:562–576
3. Fang Q, George AS, Brinkmeier ML et al (2016) Genetics of combined pituitary hormone deficiency: roadmap into the genome era. Endocr Rev 6:636–675
4. Madeira J, Nishi M, Nakaguma M et al (2017) Molecular analysis of Brazilian patients with combined pituitary hormone deficiency and orthotopic posterior pituitary lobe reveals eight different PROP1 alterations with three novel mutations. Clin Endocrinol (Oxf) 87(6):725–732
5. De Rienzo F, Mellone S, Bellone S et al (2015) Frequency of genetic defects in combined pituitary hormone deficiency: a systematic review and analysis of a multicentre Italian cohort. Clin Endocrinol 83:849–860
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