Congenital Hypopituitarism: Current Agnostic Genetics Faces Its Limits
Author:
Affiliation:
1. MIRCen, CEA Paris-Saclay , 92265 Fontenay-aux-Roses Cedex , France
Publisher
The Endocrine Society
Link
https://academic.oup.com/jcem/advance-article-pdf/doi/10.1210/clinem/dgae361/58301815/dgae361.pdf
Reference5 articles.
1. Mutations in PROP1 cause familial combined pituitary hormone deficiency;Wu;Nat Genet,1998
2. Genetic screening of combined pituitary hormone deficiency: experience in 195 patients;Reynaud;J Clin Endocrinol Metab,2006
3. Exome sequencing has a high diagnostic rate in sporadic congenital hypopituitarism and reveals novel candidate genes;Martinez-Mayer;J Clin Endocrinol Metab
4. Evidence that the etiology of congenital hypopituitarism has a major genetic component but is infrequently monogenic;Jee;Front Genet,2021
5. Congenital pituitary hypoplasia model demonstrates hypothalamic OTX2 regulation of pituitary progenitor cells;Matsumoto;J Clin Invest,2020
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