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Branchio-oto-renal syndrome: The mutation spectrum in EYA1 and its phenotypic consequences
Eugene H. Chang
, Maithilee Menezes
, Nicole C. Meyer
, Robert A. Cucci
, Virginie S. Vervoort
, Charles E. Schwartz
, Richard J.H. Smith
Research output
:
Contribution to journal
›
Article
›
peer-review
211
Scopus citations
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Keyphrases
Branchio-oto-renal Syndrome
100%
Clinical Diagnosis
33%
Coding Sequence
50%
Complex Chromosomal Rearrangement
33%
Complex Rearrangement
16%
Disease-causing mutations
16%
Duplication
16%
EYA1
100%
Genetic Testing
16%
Genotype-phenotype Analysis
16%
Mutation Spectrum
100%
New Criteria
16%
PCR-based
16%
Phenotypic Data
16%
Phenotypic Outcome
100%
Semi-quantitative PCR
16%
Sequence Analysis
16%
Sequence Variants
16%
Single nucleotide
16%
Transversion
16%
Biochemistry, Genetics and Molecular Biology
EYA1
100%
Genetic Screening
16%
Genotyping
16%
Polymerase Chain Reaction
16%
Protein Sequencing
16%
Transversion
16%