Neurofibromatosis type 1 revisited.

Abstract:

:Neurofibromatosis type 1 (NF1) is an autosomal dominant condition with a worldwide incidence of approximately 1 per 2500 to 3000 individuals. Caused by a germ-line-inactivating mutation in the NF1 gene on chromosome 17, the disease is associated with increased morbidity and mortality. In the past several years, significant progress has been made in standardizing management of the major clinical features of neurofibromatosis type 1. Moreover, improved understanding of how the neurofibromatosis type 1 protein, neurofibromin, regulates cell growth recently provided insight into the pathogenesis of the disease and has led to the development of new therapies. In this review, we describe the clinical manifestations, recent molecular and genetic findings, and current and developing therapies for managing clinical problems associated with neurofibromatosis type 1.

journal_name

Pediatrics

journal_title

Pediatrics

authors

Williams VC,Lucas J,Babcock MA,Gutmann DH,Korf B,Maria BL

doi

10.1542/peds.2007-3204

subject

Has Abstract

pub_date

2009-01-01 00:00:00

pages

124-33

issue

1

eissn

0031-4005

issn

1098-4275

pii

123/1/124

journal_volume

123

pub_type

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