Article
Branchio-oto-renal syndrome: the mutation spectrum in EYA1 and its phenotypic consequences.
Human mutation - 1 Jun 2004
Chang Eugene H, Menezes Maithilee, Meyer Nicole C, Cucci Robert A, Vervoort Virginie S, Schwartz Charles E, Smith Richard J H
Abstract excerpt
EYA1 mutations cause branchio-oto-renal (BOR) syndrome. These mutations include single nucleotide transitions and transversions, small duplications and deletions, and complex genomic rearrangements. The last cannot be detected by coding sequence analysis of EYA1. We sought to refine the clinical diagnosis of BOR syndrome by analyzing phenotypic data from families segregating EYA1 disease-causing mutations. Based...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.