The field of genetics has evolved rapidly in recent years, however early understanding of inheritance patterns began much ...

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 ...

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 ...

Women who inherit the cancer genes BRCA1 or BRCA2 from their paternal lineage may get a diagnosis a decade earlier than those women who carry the cancer genes from their mother and her ancestors, ...

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) follows an X-linked inheritance pattern. The condition most often affects males, while females may be carriers of the genetic change that causes it. If you have DMD, ...

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.

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 ...