Novel biallelic variant in BBS9 causative of Bardet–Biedl syndrome: expanding the spectrum of disease-causing genetic alterations

Abstract Background Bardet–Biedl syndrome (BBS) is a rare autosomal recessive ciliopathy disorder. Many BBS disease-causing genetic variants have been identified due to the advancement of molecular diagnostic tools. We report on a novel pathogenic variant in a consanguineous Pakistani family with an...

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Principais autores:	Julia Suárez-González, Verónica Seidel, Cristina Andrés-Zayas, Elvira Izquierdo, Ismael Buño
Formato:	Artigo
Idioma:	Inglês
Publicado em:	BMC 2021-03-01
coleção:	BMC Medical Genomics
Assuntos:	Bardet–Biedl syndrome BBS9 Novel genomic variant Splice-site Pathogenic variants
Acesso em linha:	https://doi.org/10.1186/s12920-021-00943-w
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