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

• Asıl Yazarlar: Elena Cacciatori (Yazar), Sebastiano Aleo (Yazar), Giulietta Scuvera (Yazar), Chiara Rigon (Yazar), Paola Giovanna Marchisio (Yazar), Matteo Cassina (Yazar), Donatella Milani (Yazar)
• Materyal Türü: Kitap
• Baskı/Yayın Bilgisi: BMC, 2022-10-01T00:00:00Z.
• Konular: article
• Online Erişim: 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...