BBS8 gene
The TTC8 gene is responsible for autosomal recessive Bardet-Biedl syndrome 8.
Genetests:
Related Diseases:
References:
1. |
Ansley SJ et al. (2003) Basal body dysfunction is a likely cause of pleiotropic Bardet-Biedl syndrome.
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2. |
Stoetzel C et al. (2006) BBS8 is rarely mutated in a cohort of 128 Bardet-Biedl syndrome families.
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3. |
Kubo A et al. (1999) Centriolar satellites: molecular characterization, ATP-dependent movement toward centrioles and possible involvement in ciliogenesis.
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4. |
NCBI article
NCBI 123016
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5. |
OMIM.ORG article
Omim 608132
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6. |
Orphanet article
Orphanet ID 120323
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7. |
Wikipedia article
Wikipedia EN (TTC8)
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Update: Aug. 14, 2020