A novel human disorder: QSOX2 deficiency‐induced growth restriction, gastrointestinal dysmotility and immune dysfunction highlights a new mechanism of disease.

hrp0098ha2 | A novel human disorder: QSOX2 deficiency‐induced growth restriction, gastrointestinal dysmotility and immune dysfunction highlights a new mechanism of disease. | ESPE2024

A novel human disorder: QSOX2 deficiency-induced growth restriction, gastrointestinal dysmotility and immune dysfunction highlights a new mechanism of disease.

Maharaj Avinaash , Ishida Miho , Rybak Anna , Elfeky Reem , Andrews Afiya , McGuffin Liam , Hwa Vivian , Storr Helen

Background: Defects in growth hormone (GH) action account for a substantial percentage of endocrine causes of growth restriction but are frequently unrecognised due to wide clinical and biochemical variability. We report five probands from three families who present with short stature, features of atypical growth hormone insensitivity (GHI), immune dysfunction, atopic eczema, and gastrointestinal pathology associated with novel recessive variants in a new gene...

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A novel human disorder: QSOX2 deficiency-induced growth restriction, gastrointestinal dysmotility and immune dysfunction highlights a new mechanism of disease.

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