Article
Branchio-oto-renal syndrome (BOR): novel mutations in the EYA1 gene, and a review of the mutational genetics of BOR.
Human mutation - 1 Apr 2008
Orten Dana J, Fischer Stephanie M, Sorensen Jessica L, Radhakrishna Uppala, Cremers Cor W R J, Marres Henri A M, Van Camp Guy, Welch Katherine O, Smith Richard J H, Kimberling William J
Abstract excerpt
Branchio-oto-renal syndrome (BOR) is an autosomal dominant disorder characterized by the association of branchial and external ear malformations, hearing loss, and renal anomalies. The phenotype varies from ear pits to profound hearing loss, branchial fistulae, and kidney agenesis. The most common gene mutated in BOR families is EYA1, a transcriptional activator. Over 80 different disease-causing mutations have...
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