QSOX2 Deficiency-induced short stature, gastrointestinal dysmotility and immune dysfunction

QSOX2 Deficiency-induced short stature, gastrointestinal dysmotility and immune dysfunction

Abstract Postnatal growth failure is often attributed to dysregulated somatotropin action, however marked genetic and phenotypic heterogeneity exist. We report five patients from three families who present with short stature, immune dysfunction, atopic eczema and gastrointestinal pathology associate...

Full description

Bibliographic Details
Main Authors: Avinaash V. Maharaj, Miho Ishida, Anna Rybak, Reem Elfeky, Afiya Andrews, Aakash Joshi, Frances Elmslie, Anni Joensuu, Katri Kantojärvi, Raina Y. Jia, John R. B. Perry, Edel A. O’Toole, Liam J. McGuffin, Vivian Hwa, Helen L. Storr
Format: Article
Language:English
Published: Nature Portfolio 2024-09-01
Series:Nature Communications
Online Access:https://doi.org/10.1038/s41467-024-52587-w

Internet

https://doi.org/10.1038/s41467-024-52587-w

Similar Items