Researchers from Radboudumc, Department of Human Genetics, demonstrated something remarkable in a 2014 publication in Nature.

Avery and Mollie James welcomed their first baby four months ago. They had no idea that their son, Talon, would be diagnosed ...

Acral peeling skin syndrome causes skin peeling on the hands and feet. It’s painless, but symptoms may cause distress. Learn ...

As a group, carriers of recessive disorders are slightly less healthy and have a reduced chance of having offspring. This disadvantage is greatest for carriers of a recessive gene for intellectual ...

Carriers of recessive gene mutations, long thought to be unaffected, may actually face subtle disadvantages, including more ...

As a group, carriers of recessive disorders are slightly less healthy and have a reduced chance of having offspring. This ...

A team of scientists from the San Raffaele-Telethon Institute for Gene Therapy (SR-Tiget) in Milan, Italy, has identified a ...

As a group, carriers of recessive disorders are slightly less healthy and have a reduced chance of having offspring.

Animals with blue eyes are a rare occurrence in nature due to being linked to recessive genetics, mutations, and specific ...

Autosomal recessive bestrophinopathy (ARB) is a rare retinal dystrophy caused by homozygous or compound heterozygous null variants in the BEST1 gene. Clinically, ARB presents with variable features ...