Importance of clinical evaluation and molecular testing in the branchio-oto-renal (BOR) syndrome and overlapping phenotypes.
Rickard
S
S
Boxer
M
M
Trompeter
R
R
Bitner-Glindzicz
M
M
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*
D047908:Intracellular Signaling Peptides and Proteins; D009687:Nuclear Proteins; D015534:Trans-Activators; C104381:EYA1 protein, human; D017027:Protein Tyrosine Phosphatases