BBS6 gene
The MKKS gene is responsible for autosomal recessive Bardet-Biedl syndrome 6.
Genetests:
Related Diseases:
References:
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Katsanis N et al. (2000) Mutations in MKKS cause obesity, retinal dystrophy and renal malformations associated with Bardet-Biedl syndrome.
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2. |
Katsanis N et al. (2001) Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian recessive disorder.
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3. |
Beales PL et al. (2001) Genetic and mutational analyses of a large multiethnic Bardet-Biedl cohort reveal a minor involvement of BBS6 and delineate the critical intervals of other loci.
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4. |
Slavotinek AM et al. (2000) Mutations in MKKS cause Bardet-Biedl syndrome.
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5. |
Karmous-Benailly H et al. (2005) Antenatal presentation of Bardet-Biedl syndrome may mimic Meckel syndrome.
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6. |
Stone DL et al. (2000) Mutation of a gene encoding a putative chaperonin causes McKusick-Kaufman syndrome.
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7. |
Slavotinek AM et al. (2002) Mutation analysis of the MKKS gene in McKusick-Kaufman syndrome and selected Bardet-Biedl syndrome patients.
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8. |
Badano JL et al. (2003) Heterozygous mutations in BBS1, BBS2 and BBS6 have a potential epistatic effect on Bardet-Biedl patients with two mutations at a second BBS locus.
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9. |
NCBI article
NCBI 8195
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10. |
OMIM.ORG article
Omim 604896
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11. |
Orphanet article
Orphanet ID 123245
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12. |
Wikipedia article
Wikipedia EN (MKKS)
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Update: Aug. 14, 2020