Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
The WDR60 gene encodes a protein that is involved in various processes of cell regulation. Mutations cause ausotomal recessive Short-rib thoracic dysplasia with or without polydactyly 8.
| Clinic | Method | Carrier testing |
| Turnaround | 5 days | |
| Specimen type | genomic DNA |
| Research | Method | Genomic sequencing of the entire coding region |
| Turnaround | 25 days | |
| Specimen type | genomic DNA |
| 1. |
McInerney-Leo AM et al. (2013) Short-rib polydactyly and Jeune syndromes are caused by mutations in WDR60. 
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| 2. |
Ishikawa H et al. (2012) Proteomic analysis of mammalian primary cilia.
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| 3. |
Orphanet article Orphanet ID 363310
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| 4. |
NCBI article NCBI 55112
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| 5. |
OMIM.ORG article Omim 615462
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