⑦NF1基因杂合变异。 对于无父母患病史者，满足以上≥2条临床特征可被诊断为NF1；有父母患病史者，满足以上≥1条临床特征可被诊断为NF1 [1] 。 NF1累及多系统： NF1多于幼年起病，其临床表现复杂，以神经纤维瘤为特征性表现，可伴多系统多器官损害，且存在 ...

Because NF1 is an unpredictable disorder, it varies widely in severity – even among two people in the same family. Some people with NF1 may be completely unaware that they are affected, experiencing ...

Neurofibromatosis type 1 (NF1) is the most common of the three types of neurofibromatosis and is also one of the most common inherited neurological disorders, affecting about 1 in 3,000 people ...

Contemporary Approach to Neurofibromatosis Type 1–Associated Malignant Peripheral Nerve Sheath Tumors. If you have the appropriate software installed, you can download article citation data to the ...

(SALT LAKE CITY)—As a postdoctoral fellow at the University of Utah's Eccles Institute of Human Genetics, David H. Viskochil, M.D., Ph.D, led the discovery of the gene that causes neurofibromatosis ...

A brain scan of a neurofibromatosis type 1 (NF1) patient reveals a tumor on the optic nerve connecting the left eye to the brain (right side of the image). Researchers at Washington University School ...

Q: A doctor said the rashes on my son's back were “coffee spots” and that meant he might have neurofibromatosis. I read there is a new treatment for this condition; is it a cure? A: Café-au-lait spots ...

Treatment for neurofibromatosis type 1 may involve surgery, radiation, chemotherapy, or other methods. In some cases, doctors may take a “wait and see” approach. Neurofibromatosis type 1 (NF1), ...

Neurofibromatosis type 1 (NF1) is a genetic condition that causes tumors to grow along nerves in the skin, brain, and other parts of the body. These tumors are usually noncancerous (benign), but they ...