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Germline PRKACA Amplification Leads To Cushing Syndrome Caused By 3 Adrenocortical Pathologic Phenotypes

We describe the pathology of 5 patients with germline PRKACA copy number gain and Cushing syndrome: 4 males and 1 female, aged 2 through 43 years, including a mother and son. Imaging showed normal or slightly enlarged adrenal glands in 4 patients and a unilateral mass in the fifth. Biochemically, th...

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Publicat a:Hum Pathol
Autors principals: Carney, J. Aidan, Lyssikatos, Charalampos, Lodish, Maya B., Stratakis, Constantine A.
Format: Artigo
Idioma:Inglês
Publicat: 2014
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Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC6309372/
https://ncbi.nlm.nih.gov/pubmed/25449630
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.humpath.2014.09.005
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