Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement. (2013)
Attributed to:
MICA: MRC Centre for Neuromuscular Diseases
funded by
MRC
Abstract
No abstract provided
Bibliographic Information
Digital Object Identifier: http://dx.doi.org/10.1136/jmedgenet-2012-101284
PubMed Identifier: 23456818
Publication URI: http://europepmc.org/abstract/MED/23456818
Type: Journal Article/Review
Volume: 50
Parent Publication: Journal of medical genetics
Issue: 5
ISSN: 0022-2593