Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Short-rib thoracic dysplasia with or without polydactyly type 2 is an autosomal recessive or digenic recessive disorder caused by mutations in the IFT80 gene.
| 1. |
Tüysüz B et al. (2009) Clinical variability of asphyxiating thoracic dystrophy (Jeune) syndrome: Evaluation and classification of 13 patients. 
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| 2. |
Beales PL et al. (2007) IFT80, which encodes a conserved intraflagellar transport protein, is mutated in Jeune asphyxiating thoracic dystrophy.
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| 3. |
Cavalcanti DP et al. (2011) Mutation in IFT80 in a fetus with the phenotype of Verma-Naumoff provides molecular evidence for Jeune-Verma-Naumoff dysplasia spectrum.
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| 4. |
Schmidts M et al. (2013) Mutations in the gene encoding IFT dynein complex component WDR34 cause Jeune asphyxiating thoracic dystrophy.
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| 5. |
Huber C et al. (2012) Ciliary disorder of the skeleton.
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| 6. |
OMIM.ORG article Omim 611263
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