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

• Váldodahkkit: Elena Cacciatori (Dahkki), Sebastiano Aleo (Dahkki), Giulietta Scuvera (Dahkki), Chiara Rigon (Dahkki), Paola Giovanna Marchisio (Dahkki), Matteo Cassina (Dahkki), Donatella Milani (Dahkki)
• Materiálatiipa: Girji
• Almmustuhtton: BMC, 2022-10-01T00:00:00Z.
• Fáttát: article
• Liŋkkat: 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...