Short-rib thoracic dysplasia with or without polydactyly 04
Short-rib thoracic dysplasia with or without polydactyly type 4 is an autosomal recessive disorder caused by mutations in the TTC21B gene.
Davis EE et. al. (2011) TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum.[^]
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.[^]