Joon Chung

TL;DR: The reduced severity of disease in patients without defined mutations suggests that many of these patients are mosaic for a TSC2 mutation and/or have TSC because of mutations in an as-yet-unidentified locus with a relatively mild clinical phenotype.

TL;DR: The identification of mutations in the gene encoding the transmembrane transporter protein, ABC-C6 (also known as MRP-6), one of the four genes located in the region of linkage, as cause of the disease is reported.

TL;DR: The present data further refine the localization of PXE, provide additional physical cloning resources, and will aid in the eventual identification of the genetic defect causing PXB, as well as predict four genes and two pseudogenes within this interval.

TL;DR: It is concluded that T SC2 mutations occur at substantial frequency on both the maternally and paternally derived TSC2 alleles, in contrast to many other genetic diseases including NF1.

TL;DR: The prevalence of overweight and obesity was significantly higher for both sexes in Spring 2015 than in Fall 2011 and higher adjusted odds ratios for overweight and Obesity were observed for men, blacks, and Hispanics (compared to whites).