A human homologue of the Drosophila eyes absent gene underlies Branchio-Oto-Renal (BOR) syndrome and identifies a novel gene family-Reference-Cited by-同舟云学术

A human homologue of the Drosophila eyes absent gene underlies Branchio-Oto-Renal (BOR) syndrome and identifies a novel gene family

Published:1997-02 Issue:2 Volume:15 Page:157-164
ISSN:1061-4036
Container-title:Nature Genetics
language:en
Short-container-title:Nat Genet

Author:

Abdelhak Sonia,Kalatzis Vasiliki,Heilig Roland,Compain Sylvie,Samson Delphine,Vincent Christophe,Weil Dominique,Cruaud Corinne,Sahly Iman,Leibovici Michel,Bitner-Glindzicz Maria,Francis Mary,Lacombe Didier,Vigneron Jacqueline,Charachon Robert,Boven Katia,Bedbeder Philippe,Regemorter Nicole Van,Weissenbach Jean,Petit Christine

Publisher

Springer Science and Business Media LLC

Subject

Genetics

Link

http://www.nature.com/articles/ng0297-157.pdf

Reference58 articles.

1. Melnick, M., Bixler, D., Nance, W., Silk, K. & Yune, H. Familial branchio-oto-renal dysplasia: A new addition to the branchial arch syndromes. Clin. Genet. 9, 25–34 (1976).

2. Heimler, A. & Lieber, E. Branchio-Oto-Renal syndrome: reduced penetrance and variable expressivity in four generations of a large kindred. Am. J. Med. Genet 25, 15–27 (1986).

3. Greenberg, C.R., Trevenen, C.L. & Evans, J.A. The BOR syndrome and renal agenesis — prenatal diagnosis and further clinical delineation. Prenatal Diag. 8, 103–108 (1988).

4. Fraser, F.C., Sproule, J.R. & Hatal, F. Frequency of the Branchio-Oto-Renal (BOR) syndrome in children with profond hearing loss. Am. J. Med. Genet. 7, 341–349 (1980).

5. Chen, A., Francis, M., Ni, L., Cremers, C.W.R.J., Kimberling, W.J . et al. Phenotypic manifestations of branchiootorenal syndrome. Am. J. Med. Genet. 58, 365–370 (1995).

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