MRC Epidemiology Unit

 

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

Maharaj AV, Ishida M, Rybak A, Elfeky R, Andrews A, Joshi A, Elmslie F, Joensuu A, Kantojärvi K, Jia RY, Perry JRB, O'Toole EA, McGuffin LJ, Hwa V, Storr HL

Nature communications. Sep 2024

(DOI : 10.1038/s41467-024-52587-w)

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Characterisation of dominant-negative GH receptor variants reveals a potential therapeutic target for short stature.

Andrews A, Cottrell E, Maharaj A, Ladha T, Williams J, Schilbach K, Kaisinger LR, Perry JRB, Metherell LA, McCormick PJ, Storr HL

European journal of endocrinology. Mar 2023

(DOI : 10.1093/ejendo/lvad039)

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