Short-rib thoracic dysplasia with or without polydactyly 17
Short-rib thoracic dysplasia with or without polydactyly type 17 is an autosomal recessive disorder caused by mutations in the TCTEX1D2 gene.
Schmidts M et. al. (2013) Mutations in the gene encoding IFT dynein complex component WDR34 cause Jeune asphyxiating thoracic dystrophy.[^]
Schmidts M et. al. (2015) TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport.[^]
Huber C et. al. (2012) Ciliary disorder of the skeleton.[^]