The purpose of this study is to describe recessive alleles in strictly dominant genes. Identifying recessive mutations in genes for which only dominant disease or risk alleles have been reported can ...

Technological and other advances over the past decades have led to the discovery of thousands of gene–disease associations for autosomal and X-linked recessive Mendelian disorders. Combined with ...

In general, humans have the same genes. A number of genes are varied. These control our physical traits and health. Each variation is called an allele. You inherit two alleles for each gene. One comes ...

The autosomal recessive cerebellar ataxias are a group of little known and often neglected diseases that are best understood by following a practical, multidisciplinary approach that focuses on ...

Homozygous, or homozygosity, refers to the inheritance of genes from each biological parent. Inheriting faulty genes from both parents can cause a person to develop the associated condition. Genetic ...