Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Short-rib thoracic dysplasia with or without polydactyly type 17 is an autosomal recessive disorder caused by mutations in the TCTEX1D2 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. |
Schmidts M et al. (2015) TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport.
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| 3. |
Huber C et al. (2012) Ciliary disorder of the skeleton.
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| 4. |
OMIM.ORG article Omim 617405
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