Short-rib thoracic dysplasia with or without polydactyly 10
Short-rib thoracic dysplasia with or without polydactyly type 10 is an autosomal recessive disorder caused by mutations in the IFT172 gene.
Halbritter J et. al. (2013) Defects in the IFT-B component IFT172 cause Jeune and Mainzer-Saldino syndromes in humans.[^]
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.[^]