Short-rib thoracic dysplasia with or without polydactyly type 18 is an autosomal recessive disorder caused by mutations in the IFT43 gene.
1. |
Schmidts M et al. (2013) Mutations in the gene encoding IFT dynein complex component WDR34 cause Jeune asphyxiating thoracic dystrophy. |
2. |
Huber C et al. (2012) Ciliary disorder of the skeleton. |
3. |
Duran I et al. (2017) Mutations in IFT-A satellite core component genesandproduce short rib polydactyly syndrome with distinctive campomelia. |
4. |
OMIM.ORG article Omim 617866 |