| Literature DB >> 12714390 |
E J Mayer1, G N Shuttleworth, K L Greenhalgh, J E Sansom, R H B Grey, S Kenwrick.
Abstract
Incontinentia pigmenti (IP) is a rare X linked genetic disorder, which predominantly affects females. The mutations are usually lethal in males. Two male cases are presented; a genetic mosaic for the common IP deletion and another in whom the genetic abnormality has not yet been characterised. Emphasis is placed on the ocular features present in this disorder and in particular a novel corneal feature and its possible aetiology.Entities:
Mesh：
Year: 2003 PMID： 12714390 PMCID： PMC1771667 DOI： 10.1136/bjo.87.5.554
Source DB: PubMed Journal: Br J Ophthalmol ISSN： 0007-1161 Impact factor: 4.638