REFERENCES
- Watnick T, Germino G.. From cilia to cyst. Nat Genet. 2003;34 (4):355–356.
- Badano JL, Mitsuma N, Beales PL, Katsanis N. The ciliopathies: an emerging class of human genetic disorders. Annu Rev Genomics Hum Genet. 2006;7:125–148.
- Ware SM, Aygun MG, Hildebrandt F. Spectrum of clinical diseases caused by disorders of primary cilia. Proc Am Thorac Soc. 2011;8(5):444–450.
- Deveault C, Billingsley G, Duncan JL, et al. BBS genotype-phenotype assessment of a multiethnic patient cohort calls for a revision of the disease definition. Hum Mutat. 2011;32(6):610–619.
- Otto EA, Hurd TW, Airik R, et al. Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy. Nat Genet 2010;42(10):840–850.
- Schaefer E, Zaloszyc A, Lauer J, et al. Mutations in SDCCAG8/NPHP10 cause Bardet-Biedl syndrome and are associated with penetrant renal disease and absent polydactyly. Mol Syndromol 2011;1(6):273–281.
- Beales PL, Elcioglu N, Woolf AS, Parker D, Flinter FA. New criteria for improved diagnosis of Bardet-Biedl syndrome: results of a population survey. J Med Genet 1999;36(6):437–446.
- Billingsley G, Bin J, Fieggen KJ, et al. Mutations in chaperonin-like BBS genes are a major contributor to disease development in a multiethnic Bardet-Biedl syndrome patient population. J Med Genet 2010;47(7):453–463.
- Aliferis K, Helle S, Gyapay G, et al. Differentiating Alström from Bardet-Biedl syndrome (BBS) using systematic ciliopathy genes sequencing. Ophthalmic Genet 2012;33(1):18–22.