Primary Pigmented Nodular Adrenocortical Disease (PPNAD) and pituitary adenoma in a boy with sporadic carney complex due to a novel, de novo paternal PRKAR1A mutation (R96X)

Journal of Pediatric Endocrinology and Metabolism

Volumn 20, Issue 2, 2007, Pages 247-252

  Urban, Christian ^a   Weinhäusel, Andreas ^b   Fritsch, Peter ^a   Sovinz, Petra ^a   Weinhandl, Gudrun ^a   Lackner, Herwig ^a   Moritz, Anne ^b   Haas, Oskar A ^b  

^a Universitatsklinik fur Kinder und Jugendheilkunde Graz   (Austria)

^b CHILDREN'S CANCER RESEARCH INSTITUTE   (Austria)

Author keywords

Carney complex; Cushing's syndrome; Myxoma; Pituitary adenoma; PPNAD; PRKAR1A mutation; Skin pigmentation

Indexed keywords

BROMOCRIPTINE; CYCLIC AMP DEPENDENT PROTEIN KINASE; PROTEIN SUBUNIT; CYCLIC AMP DEPENDENT PROTEIN KINASE RIALPHA SUBUNIT; CYCLIC-AMP-DEPENDENT PROTEIN KINASE RIALPHA SUBUNIT; UNCLASSIFIED DRUG;

ADRENAL CORTEX DISEASE; ALLELE; ARTICLE; CANCER SURGERY; CARNEY COMPLEX; CASE REPORT; DRUG TREATMENT FAILURE; EXON; FATHER; GENE MUTATION; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; HYPOPHYSIS ADENOMA; MALE; MINIMAL RESIDUAL DISEASE; MUTATIONAL ANALYSIS; PRECOCIOUS PUBERTY; PRIMARY PIGMENTED NODULAR ADRENOCORTICAL DISEASE; SCHOOL CHILD; TREATMENT OUTCOME; ADENOMA; CHILD; GENETICS; HYPOPHYSIS TUMOR; MULTIPLE ENDOCRINE NEOPLASIA; MUTATION; MYXOMA; PIGMENT DISORDER; SINGLE NUCLEOTIDE POLYMORPHISM; SOFT TISSUE TUMOR; SYNDROME;

ADENOMA; ADRENAL CORTEX DISEASES; ALLELES; CHILD; CYCLIC AMP-DEPENDENT PROTEIN KINASES; GERM-LINE MUTATION; HUMANS; MALE; MULTIPLE ENDOCRINE NEOPLASIA; MYXOMA; PIGMENTATION DISORDERS; PITUITARY NEOPLASMS; POLYMORPHISM, SINGLE NUCLEOTIDE; SOFT TISSUE NEOPLASMS; SYNDROME;

EID: 34247127025     PISSN: 0334018X     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

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