"Branchio-otic syndrome (also known as BOS, BOS1, BO syndrome 1 and branchiootic dysplasia) is a rare autosomal dominant disease. It manifests as abnormalities of the second branchial arch, with predominant abnormalities of the ear. No renal disease is seen, in contradistinction to its close namesake branchio-oto-renal dysplasia (BOR), with which there is broad overlap in clinical presentation, pathogenesis and management approach 1."
"Branchio-otic syndrome (also known as BOS, BOS1, BO syndrome 1 and branchiootic dysplasia) is a rare autosomal dominant disease. It manifests as abnormalities of the second branchial arch, with predominant abnormalities of the ear. No renal disease is seen, in contradistinction to its close namesake branchio-oto-renal dysplasia (BOR), with which there is broad overlap in clinical presentation, pathogenesis and management approach 1."
"Mutations in the EYA1 and SIX1 genes are found in branchio-otic syndrome 1. Penetrance is fairly high, but not complete, with both intra- and inter-family variability in its clinical severity 1."
"Mutations in the EYA1 and SIX1 genes are found in branchio-otic syndrome 1. Penetrance is fairly high, but not complete, with both intra- and inter-family variability in its clinical severity 1."
"Branchio-otic syndrome (also known as BOS, BOS1, BO syndrome 1 and branchiootic dysplasia) is a rare autosomal dominant disease. It manifests as abnormalities of the second branchial arch, with predominant abnormalities of the ear. No renal disease is seen, in contradistinction to its close namesake branchio-oto-renal dysplasia (BOR), with which there is broad overlap in clinical presentation, pathogenesis and management approach 1."
"anomalies of the outer, middle and inner ears"