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 ...

Inheritance is the passing of traits from parents to offspring. Our modern understanding of inheritance comes from a set of principles proposed by Austrian monk and researcher Gregor Mendel in 1865.

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 ...

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 ...

Duchenne muscular dystrophy (DMD) is a rare, incurable condition that typically begins in early childhood and is marked by worsening muscle weakness. The disease results from changes in a gene ...

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, ...