WD repeat-containing protein 60
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.
Genetests:
Related Diseases:
References:
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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Update: Aug. 14, 2020