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Genetic Disorders
Sickle cell disease is a group of inherited red blood cells disorders.
… Sickle cell disease is a group of inherited red blood cell disorders. … Sickle cell disease is the most common inherited … cell disease is a group of inherited red blood cells disorders … Sickle Cell Disease, Inherited Blood Disorders, Gene Mutation, Hemoglobin-beta, Chromosome 11, Red …
Genetic Disorders
Phenylketonuria is an inherited disorder of metabolism that causes an increase in the blood of a chemical known as phenylalanine.
… and body. Having too much phenylalanine can cause brain damage unless diet treatment is started. Additional … the blood of a chemical known as phenylalanine. … Genetic Disorders …
News Release
Scientists are exploring the genomic and clinical profiles of people with RUNX1 familial platelet disorder.
News Release
Extending noninvasive prenatal screening to all 24 human chromosomes can detect genetic disorders that explain miscarriage and abnormalities during pregnancy.
… screening to all 24 human chromosomes can detect genetic disorders that may explain miscarriage and abnormalities … sequencing all 24 chromosomes to uncover other, rare disorders in pregnancy. Image Credit: Getty Images.  The … … Sequencing all 24 human chromosomes uncovers rare disorders … Extending noninvasive prenatal screening to all …
Genetic Disorders
Autosomal Dominant Polycystic Kidney Disease is a genetic disorder characterized by the growth of numerous cysts in both kidneys.
… other organs, such as the heart and blood vessels in the brain. … ADPKD is usually an adult-onset condition. This … Urology Cure Foundation National Organization for Rare Disorders Genetic and Rare Disease Information Center Finding … by the growth of numerous cysts in both kidneys. … Genetic Disorders …
Genetic Disorders
Marfan syndrome an inherited disorder of connective tissue occurring once in every 10,000 to 20,000 individuals.
… … Marfan syndrome is one of the most common inherited disorders of connective tissue. It is an autosomal dominant … Marfan syndrome is not always inherited, it is always heritable. When a child with Marfan syndrome is born to … once in every 10,000 to 20,000 individuals. … Genetic Disorders …
Genetic Disorders
Spinal muscular atrophy is a group of inherited disorders that cause progressive muscle degeneration and weakness.
… Spinal muscular atrophy is a group of inherited disorders that cause progressive muscle degeneration and … … Spinal muscular atrophy is a group of inherited disorders that cause progressive muscle degeneration and … Atrophy … Spinal muscular atrophy is a group of inherited disorders that cause progressive muscle degeneration and …
Genetic Disorders
Osteogenesis imperfecta is a genetic disorder that causes a person's bones to break easily, often from little or no apparent trauma.
… easily, often from little or no apparent trauma. … Genetic Disorders …
Genetic Disorders
Methylmalonic acidemia is a group of inherited disorders in which the body is unable to process certain proteins and fats (lipids) properly.
… Methylmalonic acidemia refers to a group of inherited disorders in which the body is unable to process certain … acidemia (MMA) refers to a group of inherited disorders in which the body is unable to process certain … a family history of methylmalonic acidemia or cobalamin disorders visit a genetic counselor or physician who …
News Release
Researchers at the National Institutes of Health and their colleagues have identified genomic variants that cause a rare and severe inflammatory skin disorder, known as disabling pansclerotic morphea, and have found a potential treatment.
… to be a potential treatment for other inflammatory skin disorders or disorders related to tissue scarring, whether it is scarring … to be a potential treatment for other inflammatory skin disorders or disorders related to tissue scarring, whether it …