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 ...

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.

Scientists have identified a single gene that gives rise to a rare form of diabetes, unique to newborn babies. Mutations 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.

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 ...

Understanding inheritance patterns in polyploid crops has long posed technical and financial challenges, particularly in species like tetraploid blueberry. This study introduces a cost-effective, ...

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) 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 ...

Genomic newborn screening using whole-genome sequencing identified 1.6% of infants with high-chance, treatable genetic ...