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Genetic Disorders
Hemophilia is a bleeding disorder that slows down the blood clotting process.
… Hemophilia is a bleeding disorder that slows down the blood clotting process. … People … inherited? … About Hemophilia … Hemophilia is a bleeding disorder that slows down the blood clotting process. … Hemophilia, Bleeding Disorder, Blood Clotting, Hemophilia A, Hemophilia B, Factor …
Genetic Disorders
Inborn errors of metabolism are disorders that cause a block in a metabolic pathway leading to clinically significant consequences.
… history (how many relatives have been diagnosed with the disorder already and whether genetic testing has been … or not they have shown any signs or symptoms of the disorder is helpful in estimating the chances that they also have the disorder. We recommend talking to your metabolic specialist …
Genetic Disorders
Tay-Sachs disease is a fatal genetic disorder that results in progressive destruction of the nervous system.
… Tay-Sachs disease is a fatal genetic disorder that results in progressive destruction of the … system. … Tay-Sachs disease (TSD) is a fatal genetic disorder, most commonly occurring in children, that results … Tay-Sachs Disease … Tay-Sachs disease is a fatal genetic disorder that results in progressive destruction of the …
Genetic Disorders
Sickle cell disease is a group of inherited red blood cells disorders.
… … Sickle cell disease is the most common inherited blood disorder in the United States. Approximately 100,000 … baby born with sickle cell disease inherits a gene for the disorder from both parents. When both parents have the …
News Release
Scientists are exploring the genomic and clinical profiles of people with RUNX1 familial platelet disorder.
… clinical profiles of people with RUNX1 familial platelet disorder. … A few years ago, Emily* discovered that she had … of a gene called RUNX1 that was associated with a platelet disorder. The pieces started to come together for Emily. … to our uncle, he said we had more relatives with the disorder.” While Emily was curious about her own status, …
News Release
Extending noninvasive prenatal screening to all 24 human chromosomes can detect genetic disorders that explain miscarriage and abnormalities during pregnancy.
Genetic Disorders
Autosomal Dominant Polycystic Kidney Disease is a genetic disorder characterized by the growth of numerous cysts in both kidneys.
… Dominant Polycystic Kidney Disease (PKD) is a genetic disorder characterized by the growth of numerous cysts in … in all races. Polycystic kidney disease (PKD) is a genetic disorder characterized by the growth of numerous cysts in … Dominant Polycystic Kidney Disease (PKD) is a genetic disorder characterized by the growth of numerous cysts in …
Genetic Disorders
Spinal muscular atrophy is a group of inherited disorders that cause progressive muscle degeneration and weakness.
… Each of the subtypes is based on the severity of the disorder and the age at which symptoms begin. There are three … of an individual with an autosomal recessive inherited disorder such as SMA are carriers of one copy of the altered … of the gene they do not have signs or symptoms of the disorder. Finkel type SMA is inherited in an autosomal …
Genetic Disorders
Marfan syndrome an inherited disorder of connective tissue occurring once in every 10,000 to 20,000 individuals.
… Marfan syndrome an inherited disorder of connective tissue occurring once in every 10,000 … … About Marfan Syndrome … Marfan syndrome an inherited disorder of connective tissue occurring once in every 10,000 … to 20,000 individuals. … Marfan Syndrome, Inherited Disorder, Connective Tissue, FBN1 Gene, Myopia, Bone …
Genetic Disorders
Osteogenesis imperfecta is a genetic disorder that causes a person's bones to break easily, often from little or no apparent trauma.
… Osteogenesis imperfecta is a genetic disorder that causes a person's bones to break easily, often … trauma. … Osteogenesis imperfecta (OI) is a genetic disorder that causes a person's bones to break easily, often … mutation or an inherited genetic change, an adult with the disorder can pass the condition down to future generations. …