Short-rib thoracic dysplasia with or without polydactyly type 19 is an autosomal recessive disorder caused by mutations in the IFT81 gene.
1. |
Duran I et al. (2016) Destabilization of the IFT-B cilia core complex due to mutations in IFT81 causes a Spectrum of Short-Rib Polydactyly Syndrome. |
2. |
Schmidts M et al. (2013) Mutations in the gene encoding IFT dynein complex component WDR34 cause Jeune asphyxiating thoracic dystrophy. |
3. |
Huber C et al. (2012) Ciliary disorder of the skeleton. |
4. |
OMIM.ORG article Omim 617895 |