Exome Sequencing has a high diagnostic rate in sporadic congenital hypopituitarism and reveals novel candidate genes
J Martinez-Mayer, S Vishnopolska… - The Journal of …, 2024 - academic.oup.com
Context The pituitary gland is key for childhood growth, puberty, and metabolism. Pituitary
dysfunction is associated with a spectrum of phenotypes, from mild to severe. Congenital …
dysfunction is associated with a spectrum of phenotypes, from mild to severe. Congenital …