Clinical Aspects and Genetic Analysis of Pediatric Neurofibromatosis Type 1 with Neurological Complications

Autor: Fujita, Kenji, Yamashita, Kanako, Hoshina, Takao, Hikita, Norikatsu, Shimono, Taro, Fukai, Kazuyoshi, Takenouchi, Toshiki, Uehara, Tomoko, Kosaki, Kenjiro, Saya, Hideyuki, Hamazaki, Takashi, Seto, Toshiyuki
Jazyk: angličtina
Rok vydání: 2019
Předmět:
Zdroj: Osaka City Medical Journal. 65(1):41-54
ISSN: 0030-6096
Popis: Background : Neurofibromatosis type 1 (NF1) is an autosomal dominant disease causing multiple café-au-lait spots and various systemic signs. NF1 patients often need to be examined complications because of tumorigenesis. Here, with a focus on neurological complications, we studied the clinical features of the disease in patients in the Department of Pediatrics, Osaka City University Hospital, Japan, and the relationship between these features and patient genotype. / Methods : The subjects were 81 patients aged 0 to 44 (average 11.3, median 10.3) years who had visited our department; they were evaluated retrospectively by examination of their electronic medical records. We examined ....
Databáze: OpenAIRE