Diagnostic exome sequencing (DES) is an effective tool for diagnosis in intractable cases where the underlying cause is thought be genetic. It is commonly assumed that patients with a family history ...

Von Willebrand disease (VWD) is a bleeding disorder in which the blood does not clot as it should. Usually, people have VWD due to their genes, which may come from a male or female parent. Blood ...

This is a video synopsis/summary of an Insights involving Michael D. Shapiro, DO, and Jaime Murillo, MD. Murillo delves into the genetic inheritance patterns of lipoprotein(a) (Lp[a]), stressing its ...

Study by leading Ahmedabad-based institute was funded by the Centre's Department of Biotechnology and published in the ...

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 ...

Research on Tourette’s indicates that the condition is strongly influenced by inherited genetic factors, with environmental factors also contributing to its development. Tourette syndrome is a ...

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 ...

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 ...

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.

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, ...