Publications

Export 3 results:
Author Title [ Year(Desc)]
Filters: Keyword is Cytoplasmic Dyneins  [Clear All Filters]
2015
S Taylor, P. et al. Mutations in DYNC2LI1 disrupt cilia function and cause short rib polydactyly syndrome. Nat Commun 6, 7092 (2015).
2017
Badiner, N. et al. Mutations in DYNC2H1, the cytoplasmic dynein 2, heavy chain 1 motor protein gene, cause short-rib polydactyly type I, Saldino-Noonan type. Clin Genet 92, 158-165 (2017).
2018
Zhang, W. et al. Expanding the genetic architecture and phenotypic spectrum in the skeletal ciliopathies. Hum Mutat 39, 152-166 (2018).