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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Detalhes bibliográficos
Publicado no: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 em: 2015
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Article
Acesso em linha: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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