Genetic disorders can occur due to mutations in one gene (monogenic), multiple genes (multifactorial inheritance), and mutation in one or more chromosomes. Point mutations are where one nucleotide in ...

Sickle cell disease (SCD) is a group of hereditary red blood cell disorders. Sickle cell anemia is a type of SCD that occurs when a person inherits genes containing an atypical form of hemoglobin.

All people have two copies of every gene – one copy inherited from each parent. The NF1 gene mutation is dominant, which means that only one of the two copies of the gene needs to have the mutation to ...

Neurofibromatosis type 2 is caused by a change in the NF2 gene located on chromosome 22. This gene encodes a protein known as merlin. Mutations in the NF2 gene disrupt the function of merlin, which is ...

Deafness, the most common sensorineural hearing loss at all stages of life, occurs either independently or as part of ...