Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Short-rib thoracic dysplasia with or without polydactyly type 11 is an autosomal recessive disorder caused by mutations in the WDR34 gene.
| 1. |
Tüysüz B et al. (2009) Clinical variability of asphyxiating thoracic dystrophy (Jeune) syndrome: Evaluation and classification of 13 patients. 
|
| 2. |
Schmidts M et al. (2013) Mutations in the gene encoding IFT dynein complex component WDR34 cause Jeune asphyxiating thoracic dystrophy.
|
| 3. |
Huber C et al. (2013) WDR34 mutations that cause short-rib polydactyly syndrome type III/severe asphyxiating thoracic dysplasia reveal a role for the NF-κB pathway in cilia.
|
| 4. |
Huber C et al. (2012) Ciliary disorder of the skeleton.
|
| 5. |
OMIM.ORG article Omim 615633
|
 |
Copyright © 2005-2025 by Center for Nephrology and Metabolic Disorders, Dr. Mato Nagel, MD Albert-Schweitzer-Ring 32, D-02943 Weißwasser, Germany, Tel.: +49-3576-287922, Fax: +49-3576-287944 Sitemap | Webmail | Disclaimer | Privacy Issues | Website Credits |
