Discovery of the causative gene of a certain disease clarifies its phenotypic heterogeneity.
An unknown disease presenting with a distinct clinical and neurophysiological phenotype
is often found to be caused by a mutation of the same gene for a genetically established
disease. Thus, detection of a gene responsible for a variety of clinical phenotypes
has an impact not only for investigating pathophysiology of a group of diseases but
also for demonstrating common neural characteristics that had not been revealed by
conventional neuropathological, biochemical or neurophysiological studies. Rett syndrome
is not an exception. We should not miss a good opportunity at this stage.
To read this article in full you will need to make a payment
Purchase one-time access:
Academic & Personal: 24 hour online accessCorporate R&D Professionals: 24 hour online accessOne-time access price info
- For academic or personal research use, select 'Academic and Personal'
- For corporate R&D use, select 'Corporate R&D Professionals'
Subscribe:
Subscribe to Brain and DevelopmentAlready a print subscriber? Claim online access
Already an online subscriber? Sign in
Register: Create an account
Institutional Access: Sign in to ScienceDirect
Article info
Identification
Copyright
© 2001 Elsevier Science B.V. Published by Elsevier Inc. All rights reserved.
