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

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 affecte...

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Detalles Bibliográficos
Autores principales: Suárez-González, Julia, Seidel, Verónica, Andrés-Zayas, Cristina, Izquierdo, Elvira, Buño, Ismael
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7995718/
https://www.ncbi.nlm.nih.gov/pubmed/33771153
http://dx.doi.org/10.1186/s12920-021-00943-w

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