Bardet–Biedl syndrome: beyond the cilium

Author:

Tobin Jonathan L.,Beales Philip L.

Publisher

Springer Science and Business Media LLC

Subject

Nephrology,Pediatrics, Perinatology, and Child Health

Reference62 articles.

1. Laurence JZ, Moon RC (1866) Four cases of retinitis pigmentosa occurring in the same family accompanied by general imperfection of development. Ophthalmol Rev 2:32–41

2. Bardet G (1920) Sur un syndrome d’obesite congenitale avec polydactylie et retinite pigmentaire (contribution a l’etude des formes cliniques de l’obesite hypophysaire) University of Paris

3. Biedl A (1922) Ein Geschwisterpaar mit adiposo-genitaler Dystrophie. Dtsch Med Wochenschr 48:1633

4. Beales PL, Elcioglu N, Woolf AS, Parker D, Flinter FA (1999) New criteria for improved diagnosis of Bardet–Biedl syndrome: results of a population survey. J Med Genet 36(6):437–446

5. Moore SJ, Green JS, Fan Y, Bhogal AK, Dicks E, Fernandez BA, Stefanelli M, Murphy C, Cramer BC, Dean JC, Beales PL, Katsanis N, Bassett AS, Davidson WS, Parfrey PS (2005) Clinical and genetic epidemiology of Bardet–Biedl syndrome in Newfoundland: a 22-year prospective, population-based, cohort study. Am J Med Genet A 132(4):352–360

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