Short-rib thoracic dysplasia with or without polydactyly type 11 is an autosomal recessive disorder caused by mutations in the WDR34 gene.
1. |
Tüysüz B et al. (2009) Clinical variability of asphyxiating thoracic dystrophy (Jeune) syndrome: Evaluation and classification of 13 patients. |
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. (2013) WDR34 mutations that cause short-rib polydactyly syndrome type III/severe asphyxiating thoracic dysplasia reveal a role for the NF-κB pathway in cilia. |
4. |
Huber C et al. (2012) Ciliary disorder of the skeleton. |
5. |
OMIM.ORG article Omim 615633 |