From clinical to molecular diagnosis: relevance of diagnostic strategy in two cases of branchio-oto-renal syndrome - case report

• Main Authors: Elena Cacciatori (Author), Sebastiano Aleo (Author), Giulietta Scuvera (Author), Chiara Rigon (Author), Paola Giovanna Marchisio (Author), Matteo Cassina (Author), Donatella Milani (Author)
• Format: Book
• Published: BMC, 2022-10-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract Background Branchio-oto-renal syndrome (BOR) is an autosomal dominant disorder characterized by deafness, branchiogenic malformations and renal abnormalities. Pathogenic variants in EYA1, SIX1 and SIX5 genes cause almost half of cases; copy number variants (CNV) and complex genomic rearrang...