Tag Archives: syndrome’

Genetics Home Reference: MED13L syndrome

Cafiero C, Marangi G, Orteschi D, Ali M, Asaro A, Ponzi E, Moncada A, Ricciardi S, Murdolo M, Mancano G, Contaldo I, Leuzzi V, Battaglia D, Mercuri E, Slavotinek AM, Zollino M. Novel de novo heterozygous loss-of-function variants in MED13L and further delineation of the MED13L haploinsufficiency syndrome. Eur J Hum Genet. 2015 Nov;23(11):1499-504. doi:… Read More »

Impeding white blood cells in antiphospholipid syndrome reduced blood clots

For men and women affected with antiphospholipid syndrome (APS), blood thinners are the main treatment option. “Unfortunately, treatment with blood thinners does not prevent all cases of blood clotting in APS,” says Jason Knight, M.D., Ph.D., an assistant professor of rheumatology at Michigan Medicine. APS is an autoimmune condition characterized by blood clots in both… Read More »

Genetics Home Reference: hyaline fibromatosis syndrome

Hyaline fibromatosis syndrome is a disorder in which a clear (hyaline) substance abnormally accumulates in body tissues. This disorder affects many areas of the body, including the skin, joints, bones, and internal organs. The severity of the signs and symptoms of hyaline fibromatosis syndrome fall along a spectrum. In more severe cases (previously diagnosed as… Read More »