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When was neurofibromatosis discovered?
Neurofibromatosis type 1 (NF1) was first described in 1882 by the German pathologist Von Recklinghausen. Neurofibromatosis type 2 (NF2) was first described in 1820 by the Scottish surgeon JH Wishart.
Can a prenatal test detect neurofibromatosis?
Clinical genetic testing can confirm the presence of a mutation in the neurofibromatosis type 1 (NF1) gene. Prenatal testing for NF1 mutations is also possible using amniocentesis or chorionic villus sampling procedures. Genetic testing for neurofibromatosis type 2 (NF2) mutations is sometimes available but is accurate only in about 65 percent of those individuals tested.
What is neurofibromatosis?
Neurofibromatosis is a genetic disorder that causes tumors to grow on nerves in various parts of the body. There are three types of neurofibromatosis: NF1, NF2, and schwannomatosis. Symptoms can vary widely and may include skin changes, hearing loss, and balance problems, depending on the type of neurofibromatosis. Treatment options focus on managing symptoms and monitoring for any potential complications.
What chromosome does Neurofibromatosis effects?
WOW!! That guy is amazing. A chicken? Histerical, Neurofibromatosis affects only chromosome number 23. It also will affect the brain and is an autosomal dominant genetic disorder.It is when your chromosome has a chicken.
What has the author Boris Kin Lin written?
Boris Kin Lin has written: 'Characterization of the neurofibromatosis type 1 gene product and its interaction with RAS'
What conditions cause inherited pheochromocytomas?
Multiple Endocrine Neoplasia, type 2A (MEN2A), Multiple Endocrine Neoplasia, type 2B (MEN2B), von Hippel-Lindau disease (VHL) and Neurofibromatosis type 1 (NF1).
Which of the following is an example of an autosomal dominant disease A Huntington's disease and neurofibromatosis type 1 or B Alzheimer's Disease and Heart Disease?
A. Huntington's disease and neurofibromatosis type 1 are examples of autosomal dominant diseases. These conditions are caused by a single copy of a mutated gene on an autosome (non-sex chromosome) and can be passed down from one affected parent to their offspring with a 50% chance of inheritance.
Who discovered neurofibromatosis?
Neurofibromatosis was first formally described by the German pathologist Friedrich Daniel von Recklinghausen in the late 1800s. He published a detailed case study of the condition, which led to it being named after him as von Recklinghausen's disease.
What did Francis Collins discover?
He discovered genes causing cystic fibrosis, neurofibromatosis, and Huntington Chorea. (i would spell check this answer) please look to further references.
How can neurofibromatosis be diagnosed?
Neurofibromatosis is usually diagnosed when the patient has 10 or more cafe-au-lait spots.
What was the name of the elephant man?
The dominant theory throughout much of the 20th century was that Merrick suffered from neurofibromatosis type I. In 1986, a new theory emerged that he had Proteus syndrome. In 2001 it was proposed that Merrick had suffered from a combination of neurofibromatosis type I and Proteus syndrome. DNA tests conducted on his hair and bones have proven inconclusive.
What was the name of the elephant man's condition?
The dominant theory throughout much of the 20th century was that Merrick suffered from neurofibromatosis type I. In 1986, a new theory emerged that he had Proteus syndrome. In 2001 it was proposed that Merrick had suffered from a combination of neurofibromatosis type I and Proteus syndrome. DNA tests conducted on his hair and bones have proven inconclusive.
