Short-rib thoracic dysplasia with or without polydactyly 15
Short-rib thoracic dysplasia with or without polydactyly type 15 is an autosomal recessive disorder caused by mutations in the DYNC2LI1 gene.
Schmidts M et. al. (2013) Mutations in the gene encoding IFT dynein complex component WDR34 cause Jeune asphyxiating thoracic dystrophy.[^]
Taylor SP et. al. (2015) Mutations in DYNC2LI1 disrupt cilia function and cause short rib polydactyly syndrome.[^]
Kessler K et. al. (2015) DYNC2LI1 mutations broaden the clinical spectrum of dynein-2 defects.[^]
Huber C et. al. (2012) Ciliary disorder of the skeleton.[^]