Article

Small-intestinal dysfunction accompanies the complex endocrinopathy of human proprotein convertase 1 deficiency

2003-11-14

Abstract excerpt

We have previously described the only reported case of human proprotein convertase 1 (PC1) deficiency, in a female (Subject A) with obesity, hypogonadism, hypoadrenalism, and reactive hypoglycemia. We now report the second case of human PC1 deficiency (Subject B), also due to compound heterozygosity for novel missense and nonsense mutations. While both subjects shared the phenotypes of obesity, hypoadrenalism, rea...

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Literature Corpus work: e8fbf4e2-18e9-5220-adcf-aa71b61350a6
DOI: 10.1172/jci200318784

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