research Pseudoxanthoma Elasticum: Progress in Research Toward Treatment: Summary of the 2012 PXE International Research Meeting 46 citations , May 2013 in “The journal of investigative dermatology/Journal of investigative dermatology” Significant progress was made in understanding PXE, but effective treatments are still needed.
research Protoporphyrin IX: the Good, the Bad, and the Ugly 138 citations , November 2015 in “Journal of Pharmacology and Experimental Therapeutics” Protoporphyrin IX is useful in cancer treatment but can cause health problems if not properly regulated.
research Cantú Syndrome Is Caused by Mutations in ABCC9 148 citations , May 2012 in “The American Journal of Human Genetics” Cantú syndrome is caused by mutations in the ABCC9 gene.
research Mutations in ABCB6 Cause Dyschromatosis Universalis Hereditaria 99 citations , March 2013 in “Journal of Investigative Dermatology” Mutations in the ABCB6 gene cause Dyschromatosis Universalis Hereditaria.
research Cantú syndrome with coexisting familial pituitary adenoma 14 citations , January 2018 in “Endocrine” Cantú syndrome may be linked to pituitary adenomas.