Purpose We describe a mother and all her offspring with congenital superior oblique palsy (CSOP), and a father and all his sons with unilateral CSOP. We discuss the inheritance pattern in our ...

Nearly everyone — with rare exceptions — is born with 23 pairs of chromosomes that were passed down from parents through combinations of their 46 chromosomes. X and Y, the two most popularly known ...

Purpose: Alagille syndrome is an autosomal dominant condition characterized by a paucity of interlobular bile ducts and chronic cholestasis, cardiac disease, skeletal abnormalities, ocular ...

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 ...

Genes are located on chromosomes. Chromosomes are in pairs and genes, or their alleles, are located on each of these pairs. When the cell divides in half, each chromosome ends up in a different cell.

Sickle cell anemia is an inherited condition that follows an autosomal recessive inheritance pattern. Even if you don’t have sickle cell anemia, you can be a carrier. Sickle cell anemia is a genetic ...

Polycystic kidney disease (PKD) exists in two variants, which are inherited in different ways, named autosomal dominant PKD (ADPKD) as opposed to autosomal recessive (ARPKD). Apart from this obvious ...

The autosomal dominant optic atrophy (ADOA) treatment market is experiencing steady expansion, driven by growing disease awareness, advancements in diagnosis, and breakthrough therapies from key ...