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intraflagellar transport protein 52 homolog

The IFT52 gene encodes a protein that is member of the intraflagellar transport complex B. Mutations cause ausotomal recessive Short-rib thoracic dysplasia with or without polydactyly 16.

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 16
IFT52

References:

1.

Girisha KM et al. (2016) A homozygous nonsense variant in IFT52 is associated with a human skeletal ciliopathy.

external link
2.

Zhang W et al. (2016) IFT52 mutations destabilize anterograde complex assembly, disrupt ciliogenesis and result in short rib polydactyly syndrome.

external link
3.

NCBI article

NCBI 51098 external link
4.

OMIM.ORG article

Omim 617094 external link
5.

Orphanet article

Orphanet ID 470484 external link
Update: Aug. 14, 2020
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