Short-rib thoracic dysplasia with or without polydactyly type 15 is an autosomal recessive disorder caused by mutations in the DYNC2LI1 gene.
1. |
Schmidts M et al. (2013) Mutations in the gene encoding IFT dynein complex component WDR34 cause Jeune asphyxiating thoracic dystrophy. |
2. |
Taylor SP et al. (2015) Mutations in DYNC2LI1 disrupt cilia function and cause short rib polydactyly syndrome. |
3. |
Kessler K et al. (2015) DYNC2LI1 mutations broaden the clinical spectrum of dynein-2 defects. |
4. |
Huber C et al. (2012) Ciliary disorder of the skeleton. |
5. |
OMIM.ORG article Omim 617088 |