Short-rib thoracic dysplasia with or without polydactyly type 17 is an autosomal recessive disorder caused by mutations in the TCTEX1D2 gene.
1. |
Schmidts M et al. (2013) Mutations in the gene encoding IFT dynein complex component WDR34 cause Jeune asphyxiating thoracic dystrophy. |
2. |
Schmidts M et al. (2015) TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport. |
3. |
Huber C et al. (2012) Ciliary disorder of the skeleton. |
4. |
OMIM.ORG article Omim 617405 |