Germline PRKACA amplification causes variable phenotypes that may depend on the extent of the genomic defect: molecular mechanisms and clinical presentations

OBJECTIVE: We reported recently 5 patients with bilateral adrenocortical hyperplasia (BAH) and Cushing syndrome (CS) caused by constitutive activation of the catalytic subunit of protein kinase A (PRKACA). By doing new, in depth analysis of their cytogenetic abnormality, we attempt a better genotype...

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Publicado en:Eur J Endocrinol
Main Authors: Lodish, Maya B., Yuan, Bo, Levy, Isaac, Braunstein, Glenn D., Lyssikatos, Charalampos, Salpea, Paraskevi, Szarek, Eva, Karageorgiadis, Alexander S., Belyavskaya, Elena, Raygada, Margarita, Faucz, Fabio Rueda, Izatt, Louise, Brain, Caroline, Gardner, James, Quezado, Martha, Carney, J. Aidan, Lupski, James R., Stratakis, Constantine A.
Formato: Artigo
Idioma:Inglês
Publicado: 2015
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Article
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC4428149/
https://ncbi.nlm.nih.gov/pubmed/25924874
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1530/EJE-14-1154
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