Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
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.
| 1. |
Schmidts M et al. (2013) Mutations in the gene encoding IFT dynein complex component WDR34 cause Jeune asphyxiating thoracic dystrophy. 
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| 2. |
Mill P et al. (2011) Human and mouse mutations in WDR35 cause short-rib polydactyly syndromes due to abnormal ciliogenesis.
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| 3. |
Kannu P et al. (2007) An unclassifiable short rib-polydactyly syndrome with acromesomelic hypomineralization and campomelia in siblings.
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| 4. |
Huber C et al. (2012) Ciliary disorder of the skeleton.
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| 5. |
OMIM.ORG article Omim 614091
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