Hereditary leiomyomatosis associated with bilateral, massive, macronodular adrenocortical disease and atypical cushing syndrome: a clinical and molecular genetic investigation.

@article{Matyakhina2005HereditaryLA,
  title={Hereditary leiomyomatosis associated with bilateral, massive, macronodular adrenocortical disease and atypical cushing syndrome: a clinical and molecular genetic investigation.},
  author={Ludmila Matyakhina and Rene{\'e} J Freedman and Isabelle Bourdeau and Ming-Hui Wei and Sotirios G. Stergiopoulos and Aaron Chidakel and M Walther and Mones Abu-Asab and Maria G Tsokos and Meg F Keil and Jorge Toro and W. Marston Linehan and Constantine A. Stratakis},
  journal={The Journal of clinical endocrinology and metabolism},
  year={2005},
  volume={90 6},
  pages={3773-9}
}
Hereditary leiomyomatosis and renal cell cancer (HLRCC) is an autosomal dominant disorder caused by mutations in the fumarate hydratase (FH) gene on chromosome 1q42.3-43. Massive macronodular adrenocortical disease (MMAD) is a heterogeneous condition associated with Cushing syndrome (CS) and bilateral hyperplasia of the adrenal glands. In MMAD, cortisol… CONTINUE READING