Journal
JOURNAL OF PATHOLOGY
Volume 218, Issue 2, Pages 143-145Publisher
JOHN WILEY & SONS LTD
DOI: 10.1002/path.2552
Keywords
mulibrey nanism; genetics; pathology; ubiquitin ligase; TRIM proteins
Ask authors/readers for more resources
Mulibrey nanism is a rare autosomal recessive disorder with prenatal onset growth retardation (nanism) and dysmorphic features, including a wide range of abnormalities, such as cardiac disease (pericardial constriction, myocardial hypertrophy and fibrosis) and anomalies of muscle, liver, brain and eye, resulting in the acronym 'mulibrey'. This commentary summarizes recent analysis of the diverse pathologies seen in this syndrome and highlights the need for pathologists and geneticists to work together. Insights into the pathology of rare genetic syndromes may have important lessons for our understanding of much commoner conditions. Copyright (c) 2009 Pathological Society of Great Britain and Ireland. Published by John Wiley & Sons, Ltd.
Authors
I am an author on this paper
Click your name to claim this paper and add it to your profile.
Reviews
Recommended
No Data Available