Article

Severe NEUROG3 mutation underlies pancreatic endocrine and exocrine insufficiency

2021-05-04

Abstract excerpt

<title>Abstract</title> <p>Patients with NEUROG3 mutations suffer from diabetes mellitus due to pancreatic endocrinopathy and chronic malabsorptive diarrhea due to enteric endocrinopathy. We have identified a severe truncation mutation in NEUROG3 (P39PfsX38) that results in pancreatic exocrine insufficiency and significantly contributes to chronic malabsorptive diarrhea. We identified this novel phenotype by inte...

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Literature Corpus work: aa3b4008-fcc0-5409-9357-c0e339d41830
DOI: 10.21203/rs.3.rs-456539/v1

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