This is a video synopsis/summary of an Insights involving Michael D. Shapiro, DO, and Jaime Murillo, MD. Murillo delves into the genetic inheritance patterns of lipoprotein(a) (Lp[a]), stressing its ...

Although schwannomatosis is a genetic condition, the inheritance patterns for this disorder are complex and much less clear than for both NF1 and NF2. Some cases of schwannomatosis are familial, with ...

Study results regarding the clinical spectrum and inheritance pattern of GDF2 pathogenic variants suggest incomplete penetrance and/or variability of expressivity with a semi-dominant pattern of ...

Retinitis pigmentosa is one of the commonest forms of inherited retina degenerative blindness worldwide. With the advent of molecular technologies it has become easier to identify the genetic defects ...

Duchenne muscular dystrophy (DMD) is a genetic condition that primarily affects people assigned male at birth. However, due to the condition’s X-linked inheritance pattern, only people assigned female ...