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 ...
Forty years ago, a postdoctoral researcher named James McGrath who would go on to spend more than three decades as a clinical geneticist and research scientist at Yale, made a discovery that advanced ...
Gregor Mendel described his experiments with pea plants and proved that genes are transmitted in discrete units, with certain ...
The blueprint of who we are begins with the genes passed down from our parents. While these inherited traits give us our eye color and height, they can also contain instructions that increase our risk ...
The Y chromosome is inherited only through the paternal line. Sons receive their Y chromosome exclusively from their father.
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 ...
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.
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 ...
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