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

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 rearrangements h...

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Detalles Bibliográficos
Autores principales: Cacciatori, Elena, Aleo, Sebastiano, Scuvera, Giulietta, Rigon, Chiara, Marchisio, Paola Giovanna, Cassina, Matteo, Milani, Donatella
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9526977/
https://www.ncbi.nlm.nih.gov/pubmed/36183088
http://dx.doi.org/10.1186/s13052-022-01369-5

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9526977/
https://www.ncbi.nlm.nih.gov/pubmed/36183088
http://dx.doi.org/10.1186/s13052-022-01369-5

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