WDR34 mutations that cause short-rib polydactyly syndrome type III/severe asphyxiating thoracic dysplasia reveal a role for the NF-κB pathway in cilia. [electronic resource]
Producer: 20131230Description: 926-31 p. digitalISSN:- 1537-6605
- Carrier Proteins -- genetics
- Cilia -- genetics
- Cytoplasmic Dyneins -- genetics
- Ellis-Van Creveld Syndrome -- genetics
- Fibroblasts
- Heterozygote
- Homozygote
- Humans
- Infant, Newborn
- Male
- Mutation
- Mutation, Missense
- NF-kappa B -- metabolism
- Ribs -- abnormalities
- Short Rib-Polydactyly Syndrome -- genetics
- Signal Transduction
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Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
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