Tags: BAN, bilateral acoustic NF, Chavonne Jones, gene testing for NF, genetic counseling for nf, human genetic disorder, living with NF, NF, NF info, NF pics, nf symptoms, NF Video, NF-Neurofibromatosis, NF1, NF2, people with NF, peripheral NF, von Recklinghausen NF
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Neurofibromatosis is a genetic disorder in the nervous system that causes tumors to form on the nerves in the body. Approximately 50% of individuals with neurofibromatosis have a family history of NF. The other 50% of cases occur from spontaneous genetic mutation.Neurofibromatosis has two forms, NF1 and NF2. Neurofibromatosis 1 (NF1) is also known...
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Tags: BAN, bilateral acoustic NF, Chavonne Jones, gene testing for NF, genetic counseling for nf, human genetic disorder, NF, NF info, nf symptoms, NF-Neurofibromatosis, NF1, NF2, peripheral NF, von Recklinghausen NF
Posted in Genetic Disorders, NF-Neurofibromatosis | 1 Comment »
This interview with Drew Fromkin talks about his ideas on GINA,personalized medicine, what it means for consumers whose confidence in genetic testing, and more.
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Tags: biomarkers, Chavonne Jones, genetic testing, GINA, personalized genome, wall street journal online
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This video is dedicated to education, awareness, of support of those living with Moebius Syndrome.
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Tags: causes of moebius syndrome, Chavonne Jones, eye problems, facial deformities, facial disorders, Moebius Syndrome, moebius syndrome information, moebius syndrome video, rare genetic disorder, treatment information for moebius syndrome
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Moebius syndrome is a rare genetic disorder caused by the underdevelopment of the 6th and 7th cranial nerves, that control eye movements and facial expression. The first symptom is the inability to suck at birth. Other symptoms include: feeding, swallowing, and choking problems; excessive drooling; crossed eyes; lack of facial expression; inability to smile;...
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Tags: causes of moebius syndrome, Chavonne Jones, eye problems, facial deformities, facial disorders, Moebius Syndrome, moebius syndrome information, rare genetic disorder
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This is a video interview about this young man and his family’s experience with him being diagnosed with Marfan Syndrome.
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Tags: blood vessel problems, Chavonne Jones, eye disorder, eye problems, heart and blood vessel problems, heart problems, heart vessel problems, human genetic disorder, inherited disorder, Marfan Syndrome, marfan syndrome info, Marfan Syndrome information, Marfan syndrome video, skeletal problems, symptoms of marfan syndrome, what is marfan syndrome
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Marfan syndrome is an inherited disorder of the connective tissue that causes abnormalities of the patient’s eyes, cardiovascular system, and musculoskeletal system. Marfan syndrome is caused by a gene mutation for fibrillin on chromosome 15.This disorder can be inherited by a parent or grandparent. Fibrillin is the main component of microfibrils that allow tissues...
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Tags: aortic problems, aortic rupture, aortic tear, blood vessel, blood vessels, cardiovascular disorders, cardiovasular problems, cardivascular inherited disorder, cardivascular inherited disorders, causes of marfan syndrome, Chavonne Jones, chromosome 15, eye abnormalities, eye disorders, gene mutation, heart abnomalities, heart and blood vessel disorders, heart and blood vessel problems, heart and blood vessels, heart disorders, heart vessel, heart vessels, Marfan Syndrome, marfan syndrome info, skeletal abnormailities, skeletal disorders, what is marfan syndrome
Posted in Genetic Disorders, Marfan Syndrome | 1 Comment »
