Most cases of Moebius syndrome are spontaneous, with no family history and no known genetic cause. In certain rare cases, the disorder has been associated with defects in chromosomes 3, 10, and 13.

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 ...

Evidence has been building in recent years that our diet, our habits or traumatic experiences can have consequences for the health of our children -- and even our grandchildren. The explanation that ...

Alport syndrome is a condition that develops due to mutations in three different genes – COL4A3, COL4A4 and COL4A5. The reason that the syndrome has a significant impact on the kidneys is because all ...

These activities introduce ideas about heredity, observing the differences and similarities in a population, and modeling how inheritance works. Campers can think about organisms as systems in which ...

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 ...

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 ...

How much of our lifespan is written in our genes, and how much is sitting on our plates? A new analysis suggests that while ...

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, ...

Gregor Mendel described his experiments with pea plants and proved that genes are transmitted in discrete units, with certain ...