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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:

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

Related Diseases:

Short-rib thoracic dysplasia with or without polydactyly 08
WDR60

References:

1.

McInerney-Leo AM et al. (2013) Short-rib polydactyly and Jeune syndromes are caused by mutations in WDR60.

external link
2.

Ishikawa H et al. (2012) Proteomic analysis of mammalian primary cilia.

external link
3.

Orphanet article

Orphanet ID 363310 external link
4.

NCBI article

NCBI 55112 external link
5.

OMIM.ORG article

Omim 615462 external link
Update: Aug. 14, 2020
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