Deletions of the PRKAR1A locus at 17q24.2-q24.3 in carney complex: Genotype-phenotype correlations and implications for genetic testing

Journal of Clinical Endocrinology and Metabolism

Volumn 99, Issue 1, 2014, Pages

  Salpea, Paraskevi ^a   Horvath, Anelia ^b   London, Edra ^a   Faucz, Fabio R ^a   Vetro, Annalisa ^c   Levy, Isaac ^a   Gourgari, Evgenia ^a   Dauber, Andrew ^d   Holm, Ingrid A ^d   Morrison, Patrick J ^e   Keil, Margaret F ^a   Lyssikatos, Charalampos ^a   Smith, Eric D ^f   Sanidad, Marc A ^f   Kelly, Joann C ^f   Dai, Zunyan ^f   Mowrey, Philip ^e   Forlino, Antonella ^c   Zuffardi, Orsetta ^c   Stratakis, Constantine A ^a  

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

^b GEORGE WASHINGTON UNIVERSITY SCHOOL OF MEDICINE AND HEALTH SCIENCES   (United States)

^c UNIVERSITY OF PAVIA   (Italy)

^d BOSTON CHILDREN S HOSPITAL   (United States)

^e QUEEN'S UNIVERSITY BELFAST   (United Kingdom)

^f QUEST DIAGNOSTICS NICHOLS INSTITUTE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

BETA ACTIN; CYCLIC AMP DEPENDENT PROTEIN KINASE; DNA; MESSENGER RNA; REGULATORY SUBUNIT TYPE 1 ALPHA OF PROTEIN KINASE A; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; AGE DISTRIBUTION; ARTICLE; CARNEY COMPLEX; CHILD; CHROMOSOME 17Q; CHROMOSOME DELETION; CHROMOSOME DELETION 17Q24; CLINICAL ARTICLE; COMPARATIVE GENOMIC HYBRIDIZATION; CONTROLLED STUDY; DEVELOPMENTAL DISORDER; DIAGNOSTIC VALUE; DISEASE SEVERITY; DNA FLANKING REGION; ENZYME ACTIVITY; EXON; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE; GENE EXPRESSION; GENE LOCATION; GENE LOCUS; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC SCREENING; GENETIC VARIABILITY; GENOTYPE PHENOTYPE CORRELATION; GROWTH HORMONE SECRETING ADENOMA; HAPLOINSUFFICIENCY; HUMAN; HUMAN CELL; INFANT; MALE; MIDDLE AGED; MORBIDITY; MUTATIONAL ANALYSIS; MYXOMA; PATHOPHYSIOLOGY; PERIPHERAL LYMPHOCYTE; PIGMENT DISORDER; PRESCHOOL CHILD; PRIMARY PIGMENTED NODULAR ADRENOCORTICAL DISEASE; PRIORITY JOURNAL; PRKAR1A GENE; PROTEIN EXPRESSION; QUANTITATIVE ANALYSIS; REAL TIME POLYMERASE CHAIN REACTION; RETROSPECTIVE STUDY; SCHOOL CHILD; SEQUENCE ANALYSIS; SKELETON MALFORMATION; YOUNG ADULT;

ADOLESCENT; ADULT; CARNEY COMPLEX; CHILD; CHILD, PRESCHOOL; CHROMOSOMES, HUMAN, PAIR 17; COHORT STUDIES; CYCLIC AMP-DEPENDENT PROTEIN KINASE RIALPHA SUBUNIT; FEMALE; GENETIC ASSOCIATION STUDIES; GENETIC LOCI; GENETIC TESTING; HUMANS; INFANT; MALE; MIDDLE AGED; SEQUENCE DELETION; YOUNG ADULT;

EID: 84892148869     PISSN: 0021972X     EISSN: 19457197     Source Type: Journal    
DOI: 10.1210/jc.2013-3159     Document Type: Article

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