Article
A novel PRKAR1A mutation associated with hepatocellular carcinoma in a young patient and a variable Carney complex phenotype in affected subjects in older generations.
Clinical endocrinology - 1 Nov 2008
Gennari Monia, Stratakis Constantine A, Hovarth Anelia, Pirazzoli Piero, Cicognani Alessandro
Abstract excerpt
CONTEXT: Carney complex (CNC) is an autosomal dominant multiple endocrine neoplasia syndrome (OMIM 160980). About 70% of cases are familiar; most have mutations of the PRKAR1A gene on chromosome 17q22-24. There is little phenotype-genotype correlation known to date. OBJECTIVE: To study the genoty...
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