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...

Descrizione completa

Salvato in:
Dettagli Bibliografici
Pubblicato in:Eur J Endocrinol
Autori principali: 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.
Natura: Artigo
Lingua:Inglês
Pubblicazione: 2015
Soggetti:
Article
Accesso online: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: Aggiungi Tag
Nessun Tag, puoi essere il primo ad aggiungerne! !

Documenti analoghi