Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Short-rib thoracic dysplasia with or without polydactyly type 5 is an autosomal recessive disorder caused by mutations in the WDR19 gene.
| 1. |
Bredrup C et al. (2011) Ciliopathies with skeletal anomalies and renal insufficiency due to mutations in the IFT-A gene WDR19. 
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| 2. |
de Vries J et al. (2010) Jeune syndrome: description of 13 cases and a proposal for follow-up protocol.
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| 3. |
Schmidts M et al. (2013) Mutations in the gene encoding IFT dynein complex component WDR34 cause Jeune asphyxiating thoracic dystrophy.
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| 4. |
Huber C et al. (2012) Ciliary disorder of the skeleton.
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| 5. |
OMIM.ORG article Omim 614376
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