Germline PRKACA amplification causes variable phenotypes that may depend on the extent of the genomic defect: molecular mechanisms and clinical presentations.
Lodish MB, Yuan B, Levy I, Braunstein GD, Lyssikatos C, Salpea P, Szarek E, Karageorgiadis AS, Belyavskaya E, Raygada M, Faucz FR, Izzat L, Brain C, Gardner J, Quezado M, Carney JA, Lupski JR, Stratakis CA.
Lodish MB, et al. Among authors: quezado m.
Eur J Endocrinol. 2015 Jun;172(6):803-11. doi: 10.1530/EJE-14-1154.
Eur J Endocrinol. 2015.
PMID: 25924874
Free PMC article.