A large family with carney complex caused by the S147G PRKAR1A mutation shows a unique spectrum of disease including adrenocortical cancer

Journal of Clinical Endocrinology and Metabolism

Volumn 97, Issue 2, 2012, Pages 351-359

  Anselmo, João ^a   Medeiros, Sandra ^b   Carneiro, Victor ^c   Greene, Elizabeth ^d   Levy, Isaac ^d   Nesterova, Maria ^d   Lyssikatos, Charalampos ^d   Horvath, Anelia ^d   Carney, J Aidan ^e   Stratakis, Constantine A ^d  

^a Serviço de Endocrinologia e Nutrição   (Portugal)

^b Serviço de Dermatologia   (Portugal)

^c HOSPITAL DO DIVINO ESPÍRITO SANTO   (Portugal)

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

^e MAYO CLINIC   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CYCLIC AMP DEPENDENT PROTEIN KINASE REGULATORY SUBUNIT IALPHA;

ADRENAL CORTEX CARCINOMA; ADULT; ARTICLE; CARNEY COMPLEX; CLINICAL ARTICLE; CONTROLLED STUDY; CUSHING SYNDROME; DNA SEQUENCE; ENZYME ACTIVE SITE; ENZYME ACTIVITY; FEMALE; GENE; GENOTYPE PHENOTYPE CORRELATION; HETEROZYGOSITY; HUMAN; HUMAN CELL; HYPERCORTISOLISM; IN VITRO STUDY; NUCLEIC ACID BASE SUBSTITUTION; NUCLEOTIDE SEQUENCE; PEDIGREE ANALYSIS; POINT MUTATION; PRIORITY JOURNAL; PRKAR1A GENE; SINGLE NUCLEOTIDE POLYMORPHISM;

ADOLESCENT; ADRENAL CORTEX NEOPLASMS; ADRENAL GLAND DISEASES; ADRENOCORTICAL CARCINOMA; ADULT; AMINO ACID SUBSTITUTION; CARNEY COMPLEX; CHILD; CHILD, PRESCHOOL; CYCLIC AMP-DEPENDENT PROTEIN KINASE RIALPHA SUBUNIT; FAMILY; FEMALE; GLYCINE; HUMANS; MALE; MIDDLE AGED; MUTATION, MISSENSE; SERINE; YOUNG ADULT;

EID: 84856799660     PISSN: 0021972X     EISSN: 19457197     Source Type: Journal    
DOI: 10.1210/jc.2011-2244     Document Type: Article

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