Macronodular adrenal hyperplasia due to mutations in an armadillo repeat containing 5 (ARMC5) Gene: A clinical and genetic investigation

Journal of Clinical Endocrinology and Metabolism

Volumn 99, Issue 6, 2014, Pages

  Faucz, Fabio R ^a,c   Zilbermint, Mihail ^a   Lodish, Maya B ^a   Szarek, Eva ^a   Trivellin, Giampaolo ^a   Sinaii, Ninet ^b   Berthon, Annabel ^a   Libé, Rossella ^d   Assié, Guillaume ^d   Espiard, Stéphanie ^d   Drougat, Ludivine ^d   Ragazzon, Bruno ^d   Bertherat, Jerome ^d   Stratakis, Constantine A ^a  

^a NATIONAL INSTITUTES OF HEALTH   (United States)

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

^c PONTIFICAL CATHOLIC UNIVERSITY OF PARANÁ   (Brazil)

^d CNRS   (France)

Author keywords

[No Author keywords available]

Indexed keywords

17 HYDROXYCORTICOSTEROID; CORTICOTROPIN; HYDROCORTISONE; STEROID;

ADRENAL HYPERPLASIA; ADRENALECTOMY; ADULT; ARMADILLO REPEAT CONTAINING 5 GENE; ARTICLE; CLINICAL ARTICLE; CLINICAL ASSESSMENT; COHORT ANALYSIS; COMPUTER ASSISTED TOMOGRAPHY; CORTICOTROPIN BLOOD LEVEL; CUSHING SYNDROME; DISEASE SEVERITY; DNA DETERMINATION; FEMALE; GENE FREQUENCY; GENE FUNCTION; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GERMLINE MUTATION; HUMAN; HYDROCORTISONE BLOOD LEVEL; MACRONODULAR ADRENAL HYPERPLASIA; MALE; ORGAN WEIGHT; PHENOTYPE; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM; STEROID URINE LEVEL; TUMOR SUPPRESSOR GENE;

ADULT; ARMADILLO DOMAIN PROTEINS; COHORT STUDIES; CUSHING SYNDROME; DNA MUTATIONAL ANALYSIS; FEMALE; GENE FREQUENCY; GENETIC PREDISPOSITION TO DISEASE; HUMANS; MALE; MIDDLE AGED; MUTATION, MISSENSE; TUMOR SUPPRESSOR PROTEINS;

EID: 84902308432     PISSN: 0021972X     EISSN: 19457197     Source Type: Journal    
DOI: 10.1210/jc.2013-4280     Document Type: Article

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