Whole Exome Sequencing Identifies RAI1 Mutation in a Morbidly Obese Child Diagnosed With ROHHAD Syndrome

Por Thaker, Vidhu V., Esteves, Kristyn M., Towne, Meghan C., Brownstein, Catherine A., James, Philip M., Crowley, Laura, Hirschhorn, Joel N., Elsea, Sarah H., Beggs, Alan H., Picker, Jonathan, Agrawal, Pankaj B.
Publicado no J Clin Endocrinol Metab (2015)

A compound heterozygous mutation in GPD1 causes hepatomegaly, steatohepatitis, and hypertriglyceridemia

Por Joshi, Mugdha, Eagan, Jacqueline, Desai, Nirav K, Newton, Stephanie A, Towne, Meghan C, Marinakis, Nicholas S, Esteves, Kristyn M, De Ferranti, Sarah, Bennett, Michael J, McIntyre, Adam, Beggs, Alan H, Berry, Gerard T, Agrawal, Pankaj B
Publicado em 2014