Retinitis pigmentosa (RP) is an eye condition that can be genetic. In this way, people usually need to inherit two copies of a genetic variation that causes RP, one coming from each parent. RP may ...

Von Willebrand disease (VWD) is a bleeding disorder in which the blood does not clot as it should. Usually, people have VWD due to their genes, which may come from a male or female parent. Blood ...

In a recent study published in the Journal of Experimental Medicine, researchers identified that individuals with a deficiency of myeloid differentiation primary response 88 (MyD88) and interleukin-1 ...

Panel A shows the clinical characteristics and treatments for all six unrelated patients with autosomal dominant hypocalcemia type 1 (ADH1) who received continuous subcutaneous parathyroid hormone ...