Due to the extremely rare overlap of mitochondrial DNA depletion syndrome type 3 and pediatric hepatocellular carcinoma, the case presents daunting therapeutic challenges.

Thalassemia is a hereditary blood disorder that silently passes from parents to their children. Understanding its symptoms, ...

Background Autosomal dominant (AD) inheritance often arises through haploinsufficiency, dominant-negative or gain of function (GoF) effects, while autosomal recessive (AR) inheritance generally ...

Geleophysic dysplasia is a rare genetic condition that causes a smaller physical stature, as well as challenges with joints and internal organs, among others. Geleophysic dysplasia (GD) is inherited ...

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.

Summary: Carriers of recessive gene mutations, long thought to be unaffected, may actually face subtle disadvantages, including more medical issues, shorter educational attainment, and reduced ...

A study involving 30,000 families found that most undiagnosed developmental disorders caused by recessive genes are linked to known genes. Researchers identified new genes and highlighted the ...

Researchers assessed the role of recessive genetic variants in developmental disorders, suggesting reanalysis of genetic data could improve understanding and diagnosis of conditions for millions of ...

Summary: The largest and most diverse study on recessive genetic changes in developmental disorders reveals that over 80% of cases caused by recessive variants are linked to known genes. Researchers ...

A hearing test for a newborn baby is routine. And if it reveals a hearing problem, the choice that is presented to those hoping to improve the baby’s hearing is also routine. There are usually two ...