Identification of the gene (BBS1) most commonly involved in Bardet-Biedl syndrome, a complex human obesity syndrome

Author:

Mykytyn Kirk,Nishimura Darryl Y.,Searby Charles C.,Shastri Mythreyi,Yen Hsan-jan,Beck John S.,Braun Terry,Streb Luan M.,Cornier Alberto S.,Cox Gerald F.,Fulton Anne B.,Carmi Rivka,Lüleci Güven,Chandrasekharappa Settara C.,Collins Francis S.,Jacobson Samuel G.,Heckenlively John R.,Weleber Richard G.,Stone Edwin M.,Sheffield Val C.

Publisher

Springer Science and Business Media LLC

Subject

Genetics

Reference22 articles.

1. Bardet, G. Sur un syndrome d'obesite infantile avec polydactylie et retinite pigmentaire (contribution a l'etude des formes cliniques de l'obesite hypophysaire). Thesis, Univ. of Paris, Note: No. 479 (1920).

2. Biedl, A. Ein Geschwisterpaar mit adiposo-genitaler Dystrophie. Dtsch. Med. Wschr. 48, 1630 (1922).

3. Solis-Cohen, S. & Weiss, E. Dystrophia adiposogenitalis, with atypical retinitis pigmentosa and mental deficiency, possibly of cerebral origin: a report of four cases in one family. Trans. Assoc. Am. Phys. 39, 356–358 (1924).

4. Green, J.S. et al. The cardinal manifestations at Bardet-Biedl syndrome, a form of Laurence-Moon-Biedl syndrome. New Engl. J. Med. 321, 1002–1009 (1989).

5. Harnett, J.D. et al. The spectrum of renal disease in Laurence-Moon-Biedl syndrome. New Engl. J. Med. 319, 615–618 (1988).

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