Short-rib thoracic dysplasia with or without polydactyly 19
Short-rib thoracic dysplasia with or without polydactyly type 19 is an autosomal recessive disorder caused by mutations in the IFT81 gene.
Duran I et. al. (2016) Destabilization of the IFT-B cilia core complex due to mutations in IFT81 causes a Spectrum of Short-Rib Polydactyly Syndrome.[^]
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.[^]