Short-rib thoracic dysplasia with or without polydactyly type 16 is an autosomal recessive disorder caused by mutations in the IFT52 gene.
1. |
Schmidts M et al. (2013) Mutations in the gene encoding IFT dynein complex component WDR34 cause Jeune asphyxiating thoracic dystrophy. |
2. |
Girisha KM et al. (2016) A homozygous nonsense variant in IFT52 is associated with a human skeletal ciliopathy. |
3. |
Zhang W et al. (2016) IFT52 mutations destabilize anterograde complex assembly, disrupt ciliogenesis and result in short rib polydactyly syndrome. |
4. |
Huber C et al. (2012) Ciliary disorder of the skeleton. |
5. |
OMIM.ORG article Omim 617102 |