Small-intestinal dysfunction accompanies the complex endocrinopathy of human proprotein convertase 1 deficiency
نویسندگان
چکیده
منابع مشابه
Small-intestinal dysfunction accompanies the complex endocrinopathy of human proprotein convertase 1 deficiency.
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,...
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ژورنال
عنوان ژورنال: Journal of Clinical Investigation
سال: 2003
ISSN: 0021-9738
DOI: 10.1172/jci200318784