A NEUROFIBROMATOSIS TYPE 1 FAMILY REPORT WITH MULTIPLE CASES IN 3 CONSECUTIVE GENERATIONS

Q: How can I download an article?

To download an article from SID, first log in to the site, search for the article title, and click on the 'Download Article' option.

Q: How can I download an ISI article?

To download an ISI article on SID, enter the keyword or article title in the search bar, view the relevant results, click on the desired article, and select the 'Download Article' option.

Q: How can I access the SID database?

To access the SID database, visit SID.ir, create an account, and log in to access scientific resources.

Q: Is downloading articles from SID free?

Some articles on SID are available for free, while others require payment. Details are specified on the article's page.

OLADNABI M.; HADDADI T.; KIANMEHR A.; MANSOUR SAMAEI N.; MEHRI M.

مرکز اطلاعات علمی Scientific Information Database (SID) - Trusted Source for Research and Academic Resources

Journal Paper

Paper Information

Journal: Journal of Gorgan University of Medical Sciences Year:2017 | Volume:19 | Issue:2 (62) Page(s): 104-108

Download Full-Text

Persian Verion

View:

1,303

Download:

Cites:

Information Journal Paper

Title

A NEUROFIBROMATOSIS TYPE 1 FAMILY REPORT WITH MULTIPLE CASES IN 3 CONSECUTIVE GENERATIONS

Author(s)

Keywords

NEUROFIBROMATOSIS TYPE 1Q1

NEUROFIBROMINQ1

MUTATIONQ2

Abstract

Neurofibromatosis type1 (NF1) with the incidence of 1 in 3500 births, is the most common disorder which affects skin and peripheral nervous system. NF1 results from MUTATIONs in NF1 gene. The NF1 gene spans 350kbp and to date, nearly 2434 MUTATIONs in it were reported. The gene with 100 percent penetrance is located on chromosome 17 encoding NEUROFIBROMIN protein. Recently, many challenges of its genetic analysis have been overcome through the application of new sequencing techniques. In present study patients with NEUROFIBROMATOSIS TYPE 1 have been characterized from clinical symptoms such as presence of café au lait spot, plexiform neurofibroma, optic nerves involvement, presence of several patients in first degree relatives. These patients were in different ages including 73, 63, 44, 20 with different symptoms and severities of disease. In this communication, a NF1 family with 4 cases in 3 generations has been presented.

Cites

NF1 Mutations Analysis Using Whole Exome Sequencing Technique in 11 Unrelated Iranian Families with Neurofibromatosis Type 1

References

No record.

Cite

APA: Copy

OLADNABI, M., HADDADI, T., KIANMEHR, A., MANSOUR SAMAEI, N., & MEHRI, M.. (2017). A NEUROFIBROMATOSIS TYPE 1 FAMILY REPORT WITH MULTIPLE CASES IN 3 CONSECUTIVE GENERATIONS. JOURNAL OF GORGAN UNIVERSITY OF MEDICAL SCIENCES, 19(2 (62) ), 104-108. SID. https://sid.ir/paper/79368/en

Vancouver: Copy

OLADNABI M., HADDADI T., KIANMEHR A., MANSOUR SAMAEI N., MEHRI M.. A NEUROFIBROMATOSIS TYPE 1 FAMILY REPORT WITH MULTIPLE CASES IN 3 CONSECUTIVE GENERATIONS. JOURNAL OF GORGAN UNIVERSITY OF MEDICAL SCIENCES[Internet]. 2017;19(2 (62) ):104-108. Available from: https://sid.ir/paper/79368/en

IEEE: Copy

M. OLADNABI, T. HADDADI, A. KIANMEHR, N. MANSOUR SAMAEI, and M. MEHRI, “A NEUROFIBROMATOSIS TYPE 1 FAMILY REPORT WITH MULTIPLE CASES IN 3 CONSECUTIVE GENERATIONS,” JOURNAL OF GORGAN UNIVERSITY OF MEDICAL SCIENCES, vol. 19, no. 2 (62) , pp. 104–108, 2017, [Online]. Available: https://sid.ir/paper/79368/en

Related Journal Papers