title: Importance of clinical evaluation and molecular testing in the branchio-oto-renal (BOR) syndrome and overlapping phenotypes.
authors.forename: S
authors.initials: S
authors.lastname: Rickard
authors.forename: M
authors.initials: M
authors.lastname: Boxer
authors.forename: R
authors.initials: R
authors.lastname: Trompeter
authors.forename: M
authors.initials: M
authors.lastname: Bitner-Glindzicz
mesh_terms: D019280:Branchio-Oto-Renal Syndrome / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology*; D002877:Chromosomes, Human; D015321:Gene Rearrangement; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins; D009687:Nuclear Proteins; D017027:Protein Tyrosine Phosphatases; D015534:Trans-Activators / Q000235:genetics*
chemical_list: D047908:Intracellular Signaling Peptides and Proteins; D009687:Nuclear Proteins; D015534:Trans-Activators; C104381:EYA1 protein, human; D017027:Protein Tyrosine Phosphatases