Article
Requirement of FAT and DCHS protocadherins during hypothalamic-pituitary development.
JCI insight - 27 Oct 2020
Lodge Emily J, Xekouki Paraskevi, Silva Tatiane S, Kochi Cristiane, Longui Carlos A, Faucz Fabio R, Santambrogio Alice, Mills James L, Pankratz Nathan, Lane John, Sosnowska Dominika, Hodgson Tina, Patist Amanda L, Francis-West Philippa, Helmbacher Francoise, Stratakis Constantine, Andoniadou Cynthia L
Abstract excerpt
Pituitary developmental defects lead to partial or complete hormone deficiency and significant health problems. The majority of cases are sporadic and of unknown cause. We screened 28 patients with pituitary stalk interruption syndrome (PSIS) for mutations in the FAT/DCHS family of protocadherins that have high functional redundancy. We identified seven variants, four of which putatively damaging, in FAT2 and...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.