Short-rib thoracic dysplasia with or without polydactyly 18
Short-rib thoracic dysplasia with or without polydactyly type 18 is an autosomal recessive disorder caused by mutations in the IFT43 gene.
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.[^]
Duran I et al. (2017) Mutations in IFT-A satellite core component genesandproduce short rib polydactyly syndrome with distinctive campomelia.[^]
OMIM.ORG articleOmim 617866 [^]