GENETIC MUTATION
There is 14 Article with tag "Genetic Mutation"
Fanconi Anemia
Fanconi anemia (AF) is a rare inherited disorder that involves your bone marrow and many other parts of your body.
McCune-Albright Syndrome
McCune-Albright syndrome is a condition that affects the bones, skin, and various hormone-producing tissues.
Lynch Syndrome
Lynch syndrome is a genetic condition that increases a person's risk of developing cancer
Cowden Syndrome
Cowden syndrome is a rare genetic disorder
Smith-Lemli-Opitz Syndrome
Smith-Lemli-Opitz syndrome (SLOS) is a genetic condition that attacks many parts of the body.
Laurence-Moon-Bardet-Biedl Syndrome
Laurence-Moon-Bardet-Biedl Syndrome (SLMBB) is a rare genetic disorder that manifests through various health issues.
Kallmann Syndrome
Kallmann syndrome is a rare genetic disorder that occurs when the body does not produce enough gonadotropin-releasing hormone (GnRH).
Metabolic Disorders in Infants
Metabolic disorders in infants affect how babies digest certain nutrients such as carbohydrates, fats, or proteins and convert these nutrients into fuel for their bodies.
Achondroplasia
Achondroplasia is a bone growth disorder that can cause dwarfism.
Carpenter Syndrome
Carpenter syndrome is a rare genetic disorder that runs in families. To date, only about 70 cases have been reported globally.
Hermansky-Pudlak Syndrome
Hermansky-Pudlak Syndrome is a rare genetic metabolic disorder marked by albinism, visual impairment, and platelet dysfunction.