Open AccessInfantile Adrenocortical Tumor with an ActivatingGNAS1Mutation
Author(s) -
Alpa Sidhu,
Larisa V. Debelenko,
Vinod K. Misra
Publication year - 2012
Publication title -
the journal of clinical endocrinology and metabolism
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.206
H-Index - 353
eISSN - 1945-7197
pISSN - 0021-972X
DOI - 10.1210/jc.2012-2933
Subject(s) - gnas complex locus , pathology , carney complex , germline mutation , malignancy , hyperplasia , medicine , mutation , biology , gene , genetics
Pediatric adrenocortical tumors (ACTs) are rare and are frequently associated with tumor predisposition syndromes. Somatic GNAS1 mutations are associated with adrenocortical hyperplasia, but have not typically been reported in ACTs.
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