DYNC2H1 mutations cause asphyxiating thoracic dystrophy and short rib-polydactyly syndrome, type III.
Dagoneau N, Goulet M, Geneviève D, Sznajer Y, Martinovic J, Smithson S, Huber C, Baujat G, Flori E, Tecco L, Cavalcanti D, Delezoide AL, Serre V, Le Merrer M, Munnich A, Cormier-Daire V.
Dagoneau N, et al. Among authors: baujat g.
Am J Hum Genet. 2009 May;84(5):706-11. doi: 10.1016/j.ajhg.2009.04.016.
Am J Hum Genet. 2009.
PMID: 19442771
Free PMC article.