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

doi:10.1172/JCI18784

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Article

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

The Journal of clinical investigation - 1 Nov 2003

Jackson Robert S, Creemers John W M, Farooqi I Sadaf, Raffin-Sanson Marie-Laure, Varro Andrea, Dockray Graham J, Holst Jens J, Brubaker Patricia L, Corvol Pierre, Polonsky Kenneth S, Ostrega Diane, Becker Kenneth L, Bertagna Xavier, Hutton John C, White Anne, Dattani Mehul T, Hussain Khalid, Middleton Stephen J, Nicole Thomasina M, Milla Peter J, Lindley Keith J, O'Rahilly Stephen

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,...

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PMID: 14617756
DOI: 10.1172/JCI18784
PMCID: PMC259128

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

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