Short-rib thoracic dysplasia with or without polydactyly 05
Short-rib thoracic dysplasia with or without polydactyly type 5 is an autosomal recessive disorder caused by mutations in the WDR19 gene.
Bredrup C et al. (2011) Ciliopathies with skeletal anomalies and renal insufficiency due to mutations in the IFT-A gene WDR19.[^]
de Vries J et al. (2010) Jeune syndrome: description of 13 cases and a proposal for follow-up protocol.[^]
Schmidts M et al. (2013) Mutations in the gene encoding IFT dynein complex component WDR34 cause Jeune asphyxiating thoracic dystrophy.[^]
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OMIM.ORG articleOmim 614376 [^]