Short-rib thoracic dysplasia with or without polydactyly 07
Short-rib thoracic dysplasia with or without polydactyly type 7 is an autosomal recessive or digenic recessive disorder caused by mutations in the WDR35 gene.
Schmidts M et al. (2013) Mutations in the gene encoding IFT dynein complex component WDR34 cause Jeune asphyxiating thoracic dystrophy.[^]
Mill P et al. (2011) Human and mouse mutations in WDR35 cause short-rib polydactyly syndromes due to abnormal ciliogenesis.[^]
Kannu P et al. (2007) An unclassifiable short rib-polydactyly syndrome with acromesomelic hypomineralization and campomelia in siblings.[^]
Huber C et al. (2012) Ciliary disorder of the skeleton.[^]
OMIM.ORG articleOmim 614091 [^]