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Genetic Disorders
Factor V Leiden thrombophilia is an inherited disorder of blood clotting.
… Factor V Leiden thrombophilia is an inherited disorder of blood clotting. … Factor V Leiden is the name of a specific mutation (genetic … abnormal blood clots in blood vessels. People who have the factor V Leiden mutation are at somewhat higher than average …
Genetic Disorders
Klinefelter syndrome is a condition that occurs in men as a result of an extra X chromosome. The most common symptom is infertility.
… Klinefelter syndrome is a condition that occurs in men as a result of an … the doctor because of infertility. Klinefelter syndrome is associated with an increased risk for breast cancer, a rare tumor called extragonadal germ cell tumor, lung disease, …
Genetic Disorders
Velocardiofacial syndrome is the most common syndrome associated with a cleft palate.
… Velocardiofacial syndrome is the most common syndrome associated with a cleft … problems (35 percent). Two genes - COMT and TBX1 - are associated with VCFS. However, not all of the genes that …
News Release
NHGRI researchers have discovered clues to the possible cause of recurring, non-contagious fevers and sores that affect only children. Several genes have been implicated with the syndrome, known as PFAPA syndrome (Periodic Fever, Aphthous Stomatitis, Pharyngitis, Adenitis), which could lead to new treatments.
… … Study shows mutations in inflammation-related genes are associated with PFAPA syndrome … Researchers at the National Human Genome Research … implicated with the syndrome, known as PFAPA syndrome (Periodic Fever, Aphthous Stomatitis, Pharyngitis, Adenitis), …
News Release
TCF1 (for T cell factor-1) is essential for the creation and persistence of disease-fighting antibodies in the bloodstream.
… new discovery involves a protein called a transcription factor - a molecular switch that turns a gene or a cascade of … the researchers demonstrated that a transcription factor known as TCF1 (for T cell factor-1) is essential for the creation and persistence of …