A CASE REPORT OF TUBEROUS SCLEROSIS
Journal Title: Journal of Evidence Based Medicine and Healthcare - Year 2015, Vol 2, Issue 1
Abstract
Tuberous sclerosis is an autosomal dominant disorder characterized by multiple hamartoma lesions distributed throughout the body, especially the skin, retina, kidney, heart, central nervous system & lung. 1 It is diagnosed based on ROACH criteria which includes atleast two major and one minor criteria, but our case have four major criteria which is very rare. Tuberous sclerosis associated with gene mutation of TSC1 (OR)TSC2 encoding hamartin & tuberin respectively. 2
Authors and Affiliations
Someswar G, Ch. Rama Rao, Hemanth Kumar K, Bhupal Reddy, Prabhakar Rao R
Keywords
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- EP ID EP222164
- DOI 10.18410/jebmh/2015/10
- Views 106
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