Short-rib thoracic dysplasia with or without polydactyly 08
Short-rib thoracic dysplasia with or without polydactyly type 8 is an autosomal recessive disorder caused by mutations in the WDR60 gene.
Schmidts M et al. (2013) Mutations in the gene encoding IFT dynein complex component WDR34 cause Jeune asphyxiating thoracic dystrophy.[^]
McInerney-Leo AM et al. (2013) Short-rib polydactyly and Jeune syndromes are caused by mutations in WDR60.[^]
Huber C et al. (2012) Ciliary disorder of the skeleton.[^]
OMIM.ORG articleOmim 615503 [^]