Short-rib thoracic dysplasia with or without polydactyly 11
Short-rib thoracic dysplasia with or without polydactyly type 11 is an autosomal recessive disorder caused by mutations in the WDR34 gene.
Tüysüz B et. al. (2009) Clinical variability of asphyxiating thoracic dystrophy (Jeune) syndrome: Evaluation and classification of 13 patients.[^]
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.[^]
Schmidts M et. al. (2013) Mutations in the gene encoding IFT dynein complex component WDR34 cause Jeune asphyxiating thoracic dystrophy.[^]
Huber C et. al. (2012) Ciliary disorder of the skeleton.[^]