Whole Exome Sequencing in Patients With Ectopic Posterior Pituitary.
Tatiane S SilvaFabio Rueda FauczLaura Cristina Hernández-RamírezNathan D PankratzJohn LaneDenise M KayArthur LyraCristiane KochiConstantine A StratakisCarlos Alberto LonguiJames L MillsPublished in: Journal of the Endocrine Society (2022)
EPP cases with variants of interest identified in this study were more likely to present with severe clinical disease. Several variants were identified in genes not previously associated with EPP. Our findings confirm that EPP is a multigenic disorder. Future studies are needed to identify additional genes.