Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement. (2013)

First Author: Schmidts M
Attributed to:  MICA: MRC Centre for Neuromuscular Diseases funded by MRC


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