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...

Full description

Saved in:
Bibliographic Details
Published in: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.
Format: Artigo
Language:Inglês
Published: 2015
Subjects:
Article
Online Access: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
Tags: Add Tag
No Tags, Be the first to tag this record!

Similar Items