BBS3 gene
The ARL6 gene is responsible for autosomal recessive Bardet-Biedl syndrome 3. In Bardet-Biedl syndrome 1, mutation in this gene can further modify the phenotype.
Genetests:
Related Diseases:
References:
1. |
Sheffield VC et al. (1994) Identification of a Bardet-Biedl syndrome locus on chromosome 3 and evaluation of an efficient approach to homozygosity mapping.
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2. |
Orphanet article
Orphanet ID 121421
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3. |
NCBI article
NCBI 84100
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4. |
OMIM.ORG article
Omim 608845
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5. |
Wikipedia article
Wikipedia EN (ARL6)
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Update: Aug. 14, 2020