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 ...

It is often difficult to advocate for the importance of gene inheritance and transmission. After all, why should anyone care about Mendelian genetics? Mendel did excellent work, but his research was ...

Cystic fibrosis represents one of the most common inherited genetic disorders affecting people of European descent, touching the lives of approximately 30,000 individuals in the United States alone.

The field of genetics has evolved rapidly in recent years, however early understanding of inheritance patterns began much ...

Jaime Murillo, MD, explores genetic inheritance patterns of Lp(a) from childhood to adulthood, highlighting stability, factors affecting measurement, and awareness challenges among those in the health ...

Duchenne muscular dystrophy (DMD) follows an X-linked inheritance pattern. The condition most often affects males, while females may be carriers of the genetic change that causes it. If you have DMD, ...

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 ...

Touching Base is the dynamic podcast series from the editors of GEN. Each episode features a rotating case of senior editors—including John Sterling, Kevin Davies, Julianna LeMieux, Alex Phillippidis, ...