Article

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

2023-09-15

Abstract excerpt

<title>Abstract</title> <p>Postnatal growth failure is often attributed to dysregulated somatotropin action, however marked genetic and phenotypic heterogeneity exist. We report four patients from two families who present with short stature, immune dysfunction, atopic eczema and gut-associated pathology associated with recessive variants in <italic>QSOX2</italic>. <italic>QSOX2</italic> encodes a nuclear membrane...

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Literature Corpus work: b53dfdd8-5559-552c-aabc-2ebeb3c723b5
DOI: 10.21203/rs.3.rs-3303791/v1

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