BOR and BO Syndromes Are Allelic Defects of EYA1

Branchio-oto-renal (BOR) syndrome is an autosomal dominant disease characterized by varying combinations of branchial, otic and renal anomalies. By positional cloning, a candidate gene, EYA1, homologous to the drosophila eyes absent gene, has recently been identified at 8ql 3.3 and shown to underlie...

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Veröffentlicht in:	European journal of human genetics : EJHG 1997-07, Vol.5 (4), p.242-246
Hauptverfasser:	Vincent, Christophe, Kalatzis, Vasiliki, Abdelhak, Sonia, Chaïb, Hassan, Compain, Sylvie, Helias, Jocelyne, Vaneecloo, François-Michel, Petit, Christine
Format:	Artikel
Sprache:	eng
Schlagworte:	Alleles Branchio-Oto-Renal Syndrome - genetics Chromosome Mapping Female Humans Intracellular Signaling Peptides and Proteins Male Mutation Nuclear Proteins Original Paper Pedigree Protein Tyrosine Phosphatases Syndrome Trans-Activators - genetics
Online-Zugang:	Volltext
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