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

Volumn 69, Issue 5, 2008, Pages 751-755

  Gennari, Monia ^a,b   Stratakis, Constantine A ^b   Hovarth, Anelia ^b   Pirazzoli, Piero ^a   Cicognani, Alessandro ^a  

^a UNIVERSITY OF BOLOGNA   (Italy)

^b EUNICE KENNEDY SHRIVER NATIONAL INSTITUTE OF CHILD HEALTH AND HUMAN DEVELOPMENT   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ARTICLE; CANCER DIAGNOSIS; CARNEY COMPLEX; CASE REPORT; DIAGNOSTIC IMAGING; DNA SEQUENCE; FEMALE; GENE MUTATION; GENETIC ANALYSIS; GENOTYPE; HUMAN; HYPERCORTISOLISM; HYPOTHYROIDISM; ITALY; LIVER CELL CARCINOMA; NEWBORN HEPATITIS; PHENOTYPE; PHYSICAL EXAMINATION; PRIORITY JOURNAL; PROTEIN KINASE A TYPE 1 ALPHA REGULATORY SUBUNIT GENE;

ADULT; CARCINOMA, HEPATOCELLULAR; CHILD; CYCLIC AMP-DEPENDENT PROTEIN KINASE RIALPHA SUBUNIT; DNA MUTATIONAL ANALYSIS; FAMILY CHARACTERISTICS; FEMALE; GENETIC SCREENING; HUMANS; LIVER NEOPLASMS; MALE; PEDIGREE; PHENOTYPE; POINT MUTATION; SYNDROME;

EID: 54049112731     PISSN: 03000664     EISSN: 13652265     Source Type: Journal    
DOI: 10.1111/j.1365-2265.2008.03286.x     Document Type: Article

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